query: what type of cancer is associated with the brac1 gene

pos: BRCA1 BRCA1 Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 () gene. Orthologs are common in other mammalian species. "BRCA1" is a human tumor suppressor gene (also known as a caretaker gene) and is responsible for repairing DNA. BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double-strand breaks.

pos: BRAT1 BRAT1 BRCA1-associated ATM activator 1 is a protein in humans that is encoded by the BRAT1 gene. The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role

pos: BRAT1 in the DNA damage pathway regulated by BRCA1 and ATM. BRAT1 BRCA1-associated ATM activator 1 is a protein in humans that is encoded by the BRAT1 gene. The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein

pos: BRIP1 BRIP1 Fanconi anemia group J protein is a protein that in humans is encoded by the "BRCA1-interacting protein 1" ("BRIP1") gene. The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. This protein also appears to be important in ovarian cancer where it seems to act as a tumor suppressor. Mutations in BRIP1 are associated

pos: BRCA2 BRCA2 BRCA2 and BRCA2 () are a human gene and its protein product, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (originally breast cancer 2; currently BRCA2, DNA repair associated) are maintained by the HUGO Gene Nomenclature Committee. One alternative symbol, FANCD1, recognizes its association with the FANC protein complex. Orthologs, styled "Brca2" and Brca2, are common in other mammalian species. "BRCA2" is a human tumor suppressor gene (specifically, a caretaker gene), found in all humans; its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible

pos: Liver cancer colon cancer and carcinoid tumors mainly of the appendix), but also from breast cancer, ovarian cancer, lung cancer, renal cancer, prostate cancer. Because liver cancer is an umbrella term for many types of cancer, the signs and symptoms depend on what type of cancer is present. Cholangiocarcinoma is associated with sweating, jaundice, abdominal pain, weight loss and liver enlargement. Hepatocellular carcinoma is associated with abdominal mass, abdominal pain, emesis, anemia, back pain, jaundice, itching, weight loss and fever. Viral infection with either hepatitis C virus (HCV) or Hepatitis B virus (HBV) is the chief cause of liver cancer in the

pos: Tafazzin have demonstrated the impact that hyperactive TAZ can have on tumorigenesis, various cancers, polycystic kidney disease and emphysema. Mutations in the "TAZ" gene have been associated with a number of mitochondrial deficiencies and associated disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). TAZ has also been associated with various cancers, including breast cancer, papillary thyroid carcinoma and non-small cell lung cancer, glioma, gastric cancer, thyroid neoplasms, and rectal cancer. Barth syndrome is an X-linked disease caused by mutations in the "TAZ" gene. More than 160 mutations in the TAZ gene have been

pos: PTPRD chick and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple tissue specific alternatively spliced transcript variants of this gene have been reported. Mutations in the "PTPRD" gene are associated with autism, obsessive–compulsive disorder, and breast cancer. PTPRD has been shown to interact with PTPRS and liprin-alpha-1. PTPRD Receptor-type tyrosine-protein phosphatase delta is an enzyme that in humans is encoded by the "PTPRD" gene. The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety

pos: PTPN22 breast cancer. PTPN22 Protein tyrosine phosphatase, non-receptor type 22 (lymphoid), also known as PTPN22, is a protein that in humans is encoded by the "PTPN22" gene. This gene can be expressed in different forms. PTPN22 affects the responsiveness of T and B cell receptors, and mutations are associated with increases or decreases in risks of autoimmune diseases. The gene is located on the short arm of Chromosome 1 near the centromere (1p13.2) on the Crick (minus) strand. It is 57,898 bases in length and encodes a protein of 807 amino acids (molecular weight 91,705 Da). There are 24 exons in

pos: BRIP1 with a 10-15% risk of ovarian cancer. BRIP1 has been shown to interact with BRCA1. BRIP1 Fanconi anemia group J protein is a protein that in humans is encoded by the "BRCA1-interacting protein 1" ("BRIP1") gene. The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. This protein also appears to be important in ovarian

pos: Importin expression patterns of importin-α has been shown to cause fertility defects in "Drosophila melanogaster". There have also been studies that link altered importin-α to some cases of cancer. Breast cancer studies have implicated a truncated form of importin-α in which the NLS binding domain is missing. In addition, importin-α has been shown to transport the tumour suppressor gene, BRCA1 (breast cancer type 1 susceptibility protein), into the nucleus. The overexpression of importin-α has also been linked with poor survival rates seen in certain melanoma patients. Importin activity is also associated with some viral pathologies. For instance, in the infection pathway

pos: HLA-F ("i.e." no dimerization between HLA-F and HLA class-I is necessary). HLA-F has been linked to several diseases (Table). For cancer and tumors, HLA-F expression has been found to be enhanced in gastric adenocarcinoma, breast cancer, esophageal carcinoma, lung cancer, hepatocellular carcinoma, and neuroblastoma. HLA-F has also been associated with susceptibility to several diseases: hepatitis B, Systemic Lupus Erythematosus, and Type 1 diabetes (T1D). HLA-F HLA class I histocompatibility antigen, alpha chain F is a protein that in humans is encoded by the "HLA-F" gene. The Major Histocompatibility Complex (MHC) is a group of cell surface proteins that in humans is

pos: AAMP (gene) tumor (GIST) (for this disease and the ductal carcinomas, the expression levels are to correlate with necrosis in situ), myeloid leukemia (chronic (CML) and acute (AML) forms), lymphoma, breast cancer, glial brain tumors, colon neoplasia, epidermoid carcinoma, cervical cancer, ovarian cancer, papillary thyroid cancer, pulmonary cancer, atherosclerosis, restenosis. AAMP (gene) Angio-associated, migratory cell protein, also known as AAMP, is a protein which in humans is encoded by the "AAMP" gene. This protein has been conserved in evolution and is so common to many mammals. and it also has a yeast homolog which is the protein YCR072c. The gene is located

pos: PALB2 can function synergistically with a BRCA2 chimera (termed piccolo, or piBRCA2) to further promote strand invasion. Variants in the "PALB2" gene are associated with an increased risk of developing breast cancer of magnitude similar to that associated with BRCA2 mutations and "PALB2"-deficient cells are sensitive to PARP inhibitors. "PALB2" was recently identified as a susceptibility gene for familial pancreatic cancer by scientists at the Sol Goldman Pancreatic Cancer Research Center at Johns Hopkins. This has paved for the way for developing a new gene test for families where pancreatic cancer occurs in multiple family members. Tests for PALB2 have been

pos: Estrogen receptor tumorigenesis, and the available evidence suggests that both mechanisms contribute: The result of both processes is disruption of cell cycle, apoptosis and DNA repair, and, therefore, tumour formation. ERα is certainly associated with more differentiated tumours, while evidence that ERβ is involved is controversial. Different versions of the "ESR1" gene have been identified (with single-nucleotide polymorphisms) and are associated with different risks of developing breast cancer. Estrogen and the ERs have also been implicated in breast cancer, ovarian cancer, colon cancer, prostate cancer, and endometrial cancer. Advanced colon cancer is associated with a loss of ERβ, the predominant ER in

pos: Ubiquitin E3 ubiquitin ligase that overexpression has been shown to be the major cause of estrogen-independent breast cancer. Efp's substrate is 14-3-3 protein which negatively regulates cell cycle. The gene associated with colorectal cancer is the adenomatous polyposis coli (APC), which is a classic tumor suppressor gene. APC gene product targets beta-catenin for degradation via ubiquitination at the N-terminus, thus regulating its cellular level. Most colorectal cancer cases are found with mutations in the APC gene. However, in cases where APC gene is not mutated, mutations are found in the N-terminus of beta-catenin which renders it ubiquitination-free and thus increased activity.

pos: Risk factors for breast cancer cancer and pancreatic cancer. If a mother or a sister was diagnosed breast cancer, the risk of a hereditary "BRCA1" or "BRCA2" gene mutation is about 2-fold higher than those women without a familial history. Commercial testing for "BRCA1" and "BRCA2" gene mutations has been available in most developed countries since at least 2004. In addition to the BRCA genes associated with breast cancer, the presence of "NBR2", near breast cancer gene 1, has been discovered, and research into its contribution to breast cancer pathogenesis is ongoing. Hereditary non-BRCA1 and non-BRCA2 breast tumors (and even some sporadic carcinomas) are believed

pos: CXCR5 migration. Recently, it was shown that CXCR5 overexpression in breast cancer patients highly correlates with lymph node metastases, and elevated CXCR5 expression may contribute to abnormal cell survival and migration in breast tumors that lack functional p53 protein. Minor allele of SNP rs630923, located in the area of CXCR5 gene promoter and associated with the risk of multiple sclerosis, is responsible for appearance of MEF2C-binding site resulted in reduced CXCR5 gene promoter activity in B-cells during activation, that could lead to decreased autoimmune response CXCR5 C-X-C chemokine receptor type 5 (CXC-R5) also known as CD185 (cluster of differentiation 185) or

pos: AXIN2 malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. The most critical events of teeth, lip and palate formation occur almost concurrently. Hypodontia, defined as the congenital lack of one or more permanent teeth, is the most common dental abnormality found in humans and affects approximately 20% of the population worldwide. AXIS inhibition protein 2 (AXIN2) gene polymorphic variants may be associated with both hypodontia and oligodontia (characterized by the lack

pos: Interleukin 25 IL-17 cytokine family and is secreted by type 2 helper T cells (Th2) and mast cells. IL-25 induces the production of other cytokines, including IL-4, IL-5 and IL-13 in multiple tissues, which stimulate the expansion of eosinophils. This cytokine is an important molecule controlling immunity of the gut and has been implicated in chronic inflammation associated with the gastrointestinal tract. IL-25 can kill some types of breast cancer cells. Further, the IL-25 gene has been identified in a chromosomal region associated with (autoimmune deleted, IBD not defined as autoimmune) diseases of the gut such as inflammatory bowel disease (IBD), although

pos: Cyclin-dependent kinase 4 signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. It is regulated by Cyclin D. Palbociclib and Ribociclib are US FDA approved CDK4 and CDK6 inhibitors for the treatment of estrogen receptor positive/ HER2 negative advanced breast cancer. See

pos: Tafazzin been described but the full-length nature of all these transcripts is not known. Most isoforms are found in all tissues, but some are found only in certain types of cells. Mutations in the "TAZ" gene have been associated with mitochondrial deficiency, Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, left ventricular noncompaction (LVNC), breast cancer, papillary thyroid carcinoma, non-small cell lung cancer, glioma, gastric cancer, thyroid neoplasms, and rectal cancer. The "TAZ" gene is located on the q arm of chromosome X at position 28 and it spans 10,208 base pairs. The "TAZ" gene produces a 21.3 kDa protein

pos: Spindle checkpoint in the genomic instability resulting in cancer. In breast cancer, the genetic form characterized by the BRCA-1 gene exhibits greater levels of genomic instability than sporadic forms. Experiments showed that BRCA-1 null mice have decreased expression of the key spindle checkpoint protein MAD2 . For other cancers, more work is warranted to identify the causes of aneuploidy. Clearly variations in the physiological levels of these proteins (such as Mad2 or BubR1) are associated with aneuploidy and tumorigenesis, and this has been demonstrated using animal models. However, recent studies indicate that what seems to happen is a more complicated scenario: aneuploidy

neg: MLH1 MLH1 MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) is a protein that in humans is encoded by the MLH1 gene located on Chromosome 3. It is a gene commonly associated with hereditary nonpolyposis colorectal cancer. Orthologs of human MLH1 have also been studied in other organisms including mouse and the budding yeast "Saccharomyces cerevisiae". This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the "E. coli" DNA mismatch repair gene, mutL, which mediates protein-protein interactions during mismatch recognition, strand discrimination, and strand removal. Defects in

neg: JAZF1 fully characterized JAZF1 Juxtaposed with another zinc finger protein 1 (JAZF1) also known as TAK1-interacting protein 27 (TIP27) or zinc finger protein 802 (ZNF802) is a protein that in humans is encoded by the "JAZF1" gene. Variants are associated with an increased risk of prostate cancer, an increased risk of type 2 diabetes, and an increased height. This gene encodes a nuclear protein with three CH-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants

neg: JAZF1 JAZF1 Juxtaposed with another zinc finger protein 1 (JAZF1) also known as TAK1-interacting protein 27 (TIP27) or zinc finger protein 802 (ZNF802) is a protein that in humans is encoded by the "JAZF1" gene. Variants are associated with an increased risk of prostate cancer, an increased risk of type 2 diabetes, and an increased height. This gene encodes a nuclear protein with three CH-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been

neg: Selumetinib Selumetinib Selumetinib (AZD6244) is a drug that was discovered by Array BioPharma and was licensed to AstraZeneca. It is being investigated for the treatment of various types of cancer, such as non-small cell lung cancer (NSCLC) and thyroid cancer. The gene "BRAF" is part of the MAPK/ERK pathway, a chain of proteins in cells that communicates input from growth factors. Activating mutations in the "BRAF" gene, primarily V600E (meaning that the amino acid valine in position 600 is replaced by glutamic acid), are associated with lower survival rates in patients with papillary thyroid cancer. Another type of mutation that leads

neg: Howel–Evans syndrome gums (leukoplakia) and a high lifetime risk of esophageal cancer (95% develop esophageal cancer by the age of 65). Relapsing cutaneous horns of the lips has been reported in this condition. There are several types of this condition have been described – epidermolytic (Vörner type) and non-epidermolytic. Another classification divides these into an early onset type (type B) which occurs in the first year of life and is usually benign and a type A tylosis which occurs between the ages of 5 and 15 years and is strongly associated with esophageal cancer. Cytoglobin gene expression in oesphageal biopsies is significantly

neg: C-C chemokine receptor type 6 and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. The gene is located on the long arm of Chromosome 6 (6q27) on the Watson (plus) strand. It is 139,737 bases long and encodes a protein of 374 amino acids (molecular weight 42,494 Da). CCR6 has been associated with Crohn's disease. Expression of CCR6 was found to be up-regulated in colorectal cancer. Novel research has identified a microRNA that is able to downregulate CCR6 in cancer cell lines. C-C chemokine receptor type 6 Chemokine receptor 6 also

neg: Cav1.3 blocking effects Recent evidence from immunostaining experiments shows that "CACNA1D" is highly expressed in prostate cancers compared with benign prostate tissues. Blocking L-type channels or knocking down gene expression of "CACNA1D" significantly suppressed cell-growth in prostate cancer cells. It is important to recognise that this association does not represent a causal link between high levels of α1D protein and prostate cancer. Further investigation is needed to explore the role of "CACNA1D" gene overexpression in prostate cancer cell growth. Mutations in the S6 segment of "CACNA1D" are associated with primary aldosteronism, which causes arterial hypertension. Alterations to the Gly403 residue result

neg: Ku80 that the NHEJ pathway of DNA repair mediated by Ku80 plays a significant role in repairing double-strand breaks that would otherwise cause early senescence (see DNA damage theory of aging). A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. A deficiency in expression of a DNA repair gene increases the risk for cancer (see Deficient DNA repair in carcinogenesis). Ku80 protein expression was found to be deficient in melanoma. In addition, low expression of Ku80 was found in 15% of adenocarcinoma type and 32% of squamous cell type non-small cell lung cancers, and

neg: SDHD in the "SDHD" gene have been found in a small number of people with Carney-Stratakis syndrome, a hereditary form of a cancer of the gastrointestinal tract called gastrointestinal stromal tumor (GIST). Those with Carney-Stratakis syndrome present with a noncancerous tumor associated with the nervous system called a paraganglioma or pheochromocytoma (a type of paraganglioma). An inherited SDHD gene mutation predisposes an individual to cancer formation. An additional mutation that deletes the normal copy of the gene is needed to cause Carney-Stratakis syndrome. This second mutation, called a somatic mutation, is acquired during a person's lifetime and is present only in

neg: Cream gene to the zebrafish version, and 30% identical to the fruitfly MATP gene. The gene is best known in humans as being the location of a mutation that results in human type IV oculocutaneous albinism (OCA4). Type IV oculocutaneous albinism, like other types of human albinism, results in hypopigmentation of the skin and eyes, with increased rates of skin cancer and reduced visual acuity. None of these effects are associated with the equine cream gene. Other human MATP polymorphisms result in normal pigment variations, specifically fair skin, light eyes, and light hair in Caucasian populations. A polymorphism on the mouse MATP

neg: AKR1C3 may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. AKR1C3 is overexpressed in prostate cancer (PCa) and is associated with the development of castration-resistant prostate cancer (CRPC). In addition, AKR1C3 overexpression may serve as a promising biomarker for prostate cancer progression. AKR1C3 Aldo-keto reductase family 1 member C3 (AKR1C3), also known as 17β-hydroxysteroid dehydrogenase type 5 (17β-HSD5, HSD17B5) is a key steroidogenic

neg: PDPN It is often upregulated in certain types of cancer, including several types of squamous cell carcinomas, malignant mesothelioma and brain tumors. Moreover, it can be upregulated by cancer-associated fibroblasts (CAFs) in the tumor stroma, where it has been associated with poor prognosis. In squamous cell carcinomas, PDPN is believed to play a key role in the cancer cell invasiveness by controlling invadopodia, and thus mediating efficient ECM degradation. PDPN Podoplanin is a protein that is encoded by the "PDPN" gene in humans and animals. Podoplanin is a mucin-type protein with a mass of 36- to 43-kDa. It is relatively well

neg: MTRR (gene) consequent decrease in S-adenosylmethionine availability results in DNA hypomethylation. Low folate limits one carbon metabolism and homocysteine metabolism as vitamin B12 interacts with folate in this pathway. Additionally, this mutation is associated with an increased risk in type 2 diabetes. Specific SNPs are associated with an elevated risk of lung cancer and interact with folate dietary intake in this etiology. The (MTRR):c.66A>G mutation relates to a significant increase in the risk of lung cancer. When co-expressed with the polymorphism (MTR): 2756A>G, lung cancer risk is further increased in a dose dependent manner. Correlation between this polymorphism and increased risk of

neg: Vaginal cancer chemotherapy. Vaginal cancer in children may recur. Gene therapy to treat vaginal cancer is currently in clinical trials. Carcinoma of the vagina occurs in less than 2% of women with pelvic malignant tumors. Squamous carcinoma is the most common type of vaginal cancer. The human papilloma virus (HPV) is strongly associated with vaginal cancer. Vaginal cancer occurs most often in the upper third of the vagina (51%), 30% are found in the lower third, and 19% in the middle third. Vaginal cancer can present as an elevated lesion growing out from the epithelial surface or an ulcer-like, shallow depression. Definitive

neg: LAMP1 molecules. Cell membrane expression of LAMP-1 observed in the following cancer types: LAMP1 Lysosomal-associated membrane protein 1 (LAMP-1) also known as lysosome-associated membrane glycoprotein 1 and CD107a (Cluster of Differentiation 107a), is a protein that in humans is encoded by the "LAMP1" gene. The human "LAMP1" gene is located on the long arm (q) of chromosome 13 at region 3, band 4 (13q34). Lysosomal-associated membrane protein 1 is a glycoprotein from a family of Lysosome-associated membrane glycoproteins. The LAMP-1 glycoprotein is a type I transmembrane protein which is expressed at high or medium levels in at least 76 different normal

neg: Colorectal cancer rectal cancer if the rectum remains. Most deaths due to colon cancer are associated with metastatic disease. A gene that appears to contribute to the potential for metastatic disease, metastasis associated in colon cancer 1 ("MACC1"), has been isolated. It is a transcriptional factor that influences the expression of hepatocyte growth factor. This gene is associated with the proliferation, invasion and scattering of colon cancer cells in cell culture, and tumor growth and metastasis in mice. MACC1 may be a potential target for cancer intervention, but this possibility needs to be confirmed with clinical studies. Epigenetic factors, such as abnormal

neg: RecQ helicase is exemplified by human diseases, which all lead to genomic instability and a predisposition to cancer. There are at least five human RecQ genes; and mutations in three human RecQ genes are implicated in heritable human diseases: "WRN" gene in Werner syndrome (WS), "BLM" gene in Bloom syndrome (BS), and "RECQ4" in Rothmund-Thomson syndrome. These syndromes are characterized by premature aging, and can give rise to the diseases of cancer, type 2 diabetes, osteoporosis, and atherosclerosis, which are commonly found in old age. These diseases are associated with high incidence of chromosomal abnormalities, including chromosome breaks, complex rearrangements, deletions and

neg: Multiple endocrine neoplasia type 2 the syndromes associated with the RET gene. When inherited, multiple endocrine neoplasia type 2 is transmitted in an autosomal dominant pattern, which means affected people have one affected parent, and possibly affected siblings and children. Some cases, however, result from spontaneous new mutations in the "RET gene". These cases occur in people with no family history of the disorder. In MEN2B, for example, about half of all cases arise as spontaneous new mutations. Diagnosis is suspected when a patient with family history of two of the three classical tumors (medullary thyroid cancer, pheochromocytoma, parathyroid adenoma) or MEN2 presents with one

neg: Long interspersed nuclear element is Haemophilia A, which is caused by insertional mutagenesis. There are nearly 100 examples of known diseases caused by retroelement insertions, including some types of cancer and neurological disorders. Correlation between L1 mobilization and oncogenesis has been reported for epithelial cell cancer (carcinoma). Hypomethylation of LINES is associated with chromosomal instability and altered gene expression and is found in various cancer cell types in various tissues types. Hypomethylation of a specific L1 located in the MET onco gene is associated with bladder cancer tumorogenesis, Shift work sleep disorder is associated with increased cancer risk because light exposure at night reduces

neg: Melanoma kinases (CDKs) – which has been localised to the p21 region of human chromosome 9. FAMMM is typically characterized by having 50 or more combined moles in addition to a family history of melanoma. It is transmitted autosomal dominantly and mostly associated with the CDKN2A mutations. People who have CDKN2A mutation associated FAMMM have a 38 fold increased risk of pancreatic cancer. Other mutations confer lower risk, but are more common in the population. People with mutations in the MC1R gene are two to four times more likely to develop melanoma than those with two wild-type (typical unaffected type) copies.

neg: N-acetyltransferase 2 (a combination of SNPs observed in a given individual). N-acetyltransferase 2 N-acetyltransferase 2 (arylamine N-acetyltransferase), also known as NAT2, is an enzyme which in humans is encoded by the "NAT2" gene. This gene encodes a type of N-acetyltransferase. The NAT2 isozyme functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in NAT2 are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near NAT2. The

neg: N-acetyltransferase 2 N-acetyltransferase 2 N-acetyltransferase 2 (arylamine N-acetyltransferase), also known as NAT2, is an enzyme which in humans is encoded by the "NAT2" gene. This gene encodes a type of N-acetyltransferase. The NAT2 isozyme functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in NAT2 are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near NAT2. The NAT2 acetylator phenotype can be inferred from NAT2 genotype

neg: C-C chemokine receptor type 7 lung cancer, gastric cancer and oesophageal cancer. Expression of CCR7 by cancer cells is linked with metastasis to lymph nodes. C-C chemokine receptor type 7 C-C chemokine receptor type 7 is a protein that in humans is encoded by the "CCR7" gene. Two ligands have been identified for this receptor: the chemokines (C-C motif) ligand 19 (CCL19/ELC) and (C-C motif) ligand 21 (CCL21). CCR7 has also recently been designated CD197 (cluster of differentiation 197). The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr

neg: EGR2 as they entered the brainstem, and there was fusion of the glossopharyngeal (IX) nerve complex. The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1D, Dejerine–Sottas disease, and Congenital Hypomyelinating Neuropathy. Two studies have linked "EGR2" expression to proliferation of osteoprogenitors and cell lines derived from Ewing sarcoma, which is a highly aggressive bone-associated cancer. New research suggests that Krox20 - or the lack of it - is the reason for male baldness. EGR2 Early growth response protein 2 is

neg: SR protein Mutations in mRNA, because of nonsense-associated altered splicing by SR proteins, have been linked to ataxia telangiectasia, neurofibromatosis type 1, several cancers, HIV-1, and spinal muscular atrophy. Several SR proteins have been implicated in cancer. Elevated levels of SF2/ASF, SC35, and SRp20 have all been associated with breast and ovarian cancer development. SF2/ASF is also upregulated in lung, kidney, and liver tumors. SFRS1, the gene that codes for SF2/ASF, is a known proto-oncogene. Mutations in the ESE sequence of BRCA1 have been linked to irregular exon skipping because SF2/ASF cannot recognize the ESE. Three SR proteins have been implicated in

neg: Folliculin With the advent of multiplex ligation-dependent probe amplification (MLPA) technology, partial deletions of the "FLCN" gene have also been identified permitting a "FLCN" mutation detection rate in BHD cohorts that approaches 90%. Very few "FLCN" mutations have been found in association with sporadic kidney tumors indicating that "FLCN" mutation may play only a minor role in non-inherited kidney cancer. Experimental evidence supports a role for "FLCN" as a tumor suppressor gene. In BHD-associated kidney tumors, the inherited "FLCN" gene with a germline mutation is present in all cells, but the remaining wild type copy is inactivated in the tumor cells

neg: HLA-DR17 myositis. In autoimmune hepatitis, DRB1*0301 correlates with more severe and difficult to treat disease. DRB1*0301:DQA1*05:DQB1*0201 is associated with diabetes mellitus type 1, ovarian cancer, non-thymomic myasthenia gravis, idiopathic inflammatory myopathies, non-cancer associated Lambert-Eaton myasthenic syndrome and sarcoidosis The DRB1*0301/DRB1*1501 heterozygote is linked to primary Sjögren's syndrome HLA-DR17 is genetically linked to DR52 and HLA-DQ2 serotypes. These serotypes are the result of gene products from the HLA-DRB3* and HLA DQA1*0501 and HLA DQB1*0201 alleles. DRB1*0301 is frequently within by the "Super-B8" or ancestral HLA haplotype: A*0101 : Cw*0701 : B*0801 : DRB1*0301 : DQA1*0501 : DQB1*0201 This haplotype is known as

neg: Migration inducting gene 7 Migration inducting gene 7 Migration inducting gene 7 (Mig-7 or Mig7) is a gene. The protein is cysteine-rich, and localized to the cell membrane and cytoplasm. It is the first-in-class of novel proteins translated from what are thought to be long Non-coding RNAs. Induction of Mig-7 expression occurs downstream of Epidermal growth factor/Epidermal growth factor receptor, Cox-2/PGE-2 or Hepatocyte growth factor/c-Met activation and signalling. Data has shown that Mig-7 expression is specific to human embryonic/fetal cytotrophoblast cells and epithelial type cancer cells, while not expressed in normal cells. Data demonstrate that targeting of Mig-7 simultaneously inhibits more than one cancer-progressing

neg: MSH2 Mutations in the MSH2 gene are associated with microsatellite instability and some cancers, especially with hereditary nonpolyposis colorectal cancer (HNPCC). Hereditary nonpolyposis colorectal cancer (HNPCC), sometimes referred to as Lynch syndrome, is inherited in an autosomal dominant fashion, where inheritance of only one copy of a mutated mismatch repair gene is enough to cause disease phenotype. Mutations in the MSH2 gene account for 40% of genetic alterations associated with this disease and is the leading cause, together with MLH1 mutations. Mutations associated with HNPCC are broadly distributed in all domains of MSH2, and hypothetical functions of these mutations based on

neg: MUTYH-associated polyposis individuals with MUTYH-associated polyposis develop colorectal cancer. MUTYH-associated polyposis MUTYH-associated polyposis is an autosomal recessive polyposis syndrome. The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, MUTYH. The MUTYH gene encodes a base excision repair protein, which corrects oxidative damage to DNA. Affected individuals have an increased risk of colorectal cancer, precancerous colon polyps (adenomas) and a increased risk of several additional cancers. About 1-2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH associated polyposis syndrome. Without surveillance or

neg: Cancer Genome Anatomy Project fundamental cause of cancer is the inability for a cell to regulate its gene expression. To characterise a specific type of cancer, the proteins that are produced from the altered gene expression or the mRNA precursor to the protein can be examined. CGAP works to associate a particular cell's expression profile, molecular signature or transcriptome, which is essentially the cell's fingerprint, with the cell's phenotype. Therefore, expression profiles exist with consideration to cancer type and stage of progression. CGAP's initial goal was to establish a Tumor Gene Index (TGI) to store the expression profiles. This would have contributions to both

neg: SPINK1 SPINK1 Pancreatic secretory trypsin inhibitor (PSTI) also known as serine protease inhibitor Kazal-type 1 (SPINK1) or tumor-associated trypsin inhibitor (TATI) is a protein that in humans is encoded by the "SPINK1" gene. Mutations in SPINK1 has been associated with hereditary pancreatitis. Trypsinogen is normally created and stored an inactive zymogen of trypsin in the pancreas, but occasionally will autoactivate itself. PSTI serves to cleave prematurely activated trypsin to prevent the enzyme from causing cellular damage to the organ. Without the function of PSTI, the pancreas is subject to repeated episodes of damage. It has also been associated with prostate cancer.

neg: Tazemetostat Tazemetostat Tazemetostat (EPZ-6438) is an experimental cancer drug that acts as a potent selective EZH2 inhibitor. According to the NCI Drug Dictionary, "tazemetostat is an orally available, small molecule selective and S-adenosyl methionine (SAM) competitive inhibitor of histone methyl transferase EZH2, with potential antineoplastic activity. Upon oral administration, tazemetostat selectively inhibits the activity of both wild-type and mutated forms of EZH2. Inhibition of EZH2 specifically prevents the methylation of histone H3 lysine 27 (H3K27). This decrease in histone methylation alters gene expression patterns associated with cancer pathways and results in decreased tumor cell proliferation in EZH2 mutated cancer cells. EZH2,

neg: Vimentin been established as a biomarker of colon cancer and this is being utilized in the development of fecal tests for colon cancer. Statistically significant levels of vimentin gene methylation have also been observed in certain upper gastrointestinal pathologies such as Barrett's esophagus, esophageal adenocarcinoma, and intestinal type gastric cancer. High levels of DNA methylation in the promotor region have also been associated with markedly decreased survival in hormone positive breast cancers. Downregulation of vimentin was identified in cystic variant of papillary thyroid carcinoma using a proteomic approach. See also Anti-citrullinated protein antibody for its use in diagnosis of rheumatoid arthritis.

neg: Cat body-type mutation tend to have shorter more kinked tails. This can be distinguished phenotypically from the Manx cat mutation by the presence of kinking in the tail, often forming what looks like a knot at the distal end of the tail. Unlike the Manx tailless gene, there are no associated skeletal disorders and the gene is not associated with lethality. M = Manx tailless gene (dominant with high penetrance). Cats with the homozygous genotype (MM) die before birth, and stillborn kittens show gross abnormalities of the central nervous system. Cats with the heterozygous genotype (Mm) show severely shortened tail length, ranging from

neg: GLIPR1 type vs cancer type and number of cancer types vs postiiton in amino acid sequence is provided in the link. GLIPR1 Glioma pathogenesis-related protein 1 is a protein that in humans is encoded by the "GLIPR1" gene. This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. The previous finding of RTVP1 (GLIPR1) as a p53 target gene with tumor suppressor functions prompted the researches to initiate a genome-wide sequence homology search for RTVP1/GLIPR1-like (GLIPR1L) genes. p53, the tumor suppressor gene is the most commonly mutated gene in human

neg: Griscelli syndrome type 2 syndrome. This latter condition may be fatal in the absence of bone marrow transplantation. Persons with type 3 have the typical light skin and hair coloring but are otherwise normal. There are three types of Griscelli syndrome. Type 1 is associated with mutations in the MYO5A gene Type 2 is associated with mutations in RAB27A gene. Both these genes are located on the long arm of chromosome 15 (15q21). Type 3 is associated with mutations in the MLPH gene. All types are inherited in an autosomal recessive fashion. This includes Chediak-Higashi syndrome and Elejalde syndrome (neuroectodermal melanolysosomal disease). This syndrome

neg: Blastoma patient and a mutation can alter the prognosis. In the case of retinoblastoma, patients carry a visibly abnormal karyotype, with a loss of function mutation on a specific band of chromosome 13. This recessive deletion on the rb gene is also associated with other cancer types and must be present on both alleles, for a normal cell to progress towards malignancy. Blastoma A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor cells, often called blasts. Examples are nephroblastoma, medulloblastoma, and retinoblastoma. The suffix "-blastoma" is used to imply a tumor of

neg: Uterine fibroid gene. A syndrome (Reed's syndrome) that causes uterine leiomyomata along with cutaneous leiomyomata and renal cell cancer has been reported. This is associated with a mutation in the gene that produces the enzyme fumarate hydratase, located on the long arm of chromosome 1 (1q42.3-43). Inheritance is autosomal dominant. Fibroids are a type of uterine leiomyoma. Fibroids grossly appear as round, well circumscribed (but not encapsulated), solid nodules that are white or tan, and show whorled appearance on histological section. The size varies, from microscopic to lesions of considerable size. Typically lesions the size of a grapefruit or bigger are felt

neg: Pulmonary alveolus to replace damaged type I cells. MUC1, a human gene associated with type II pneumocytes, has been identified as a marker in lung cancer. Another type of cell, known as an alveolar macrophage, resides on the internal surfaces of the air cavities of the alveoli, the alveolar ducts, and the bronchioles. They are mobile scavengers that serve to engulf foreign particles in the lungs, such as dust, bacteria, carbon particles, and blood cells from injuries. Reinflation of the alveoli following exhalation is made easier by pulmonary surfactant, which is a phospholipid and protein mixture that reduces surface tension in the

neg: CDKN2A CDKN2A are common in the majority of human cancers, with estimates that CDKN2A is the second most commonly inactivated gene in cancer after p53. Germline mutations of CDKN2A are associated with familial melanoma, glioblastoma and pancreatic cancer. The "CDKN2A" gene also contains one of 27 SNPs associated with increased risk of coronary artery disease. The "CDKN2A" gene resides on chromosome 9 at the band 9p21 and contains 8 exons. This gene encodes two proteins, p16 and p14ARF, which are transcribed from the same second and third exons but alternative first exons: p16 from exon 1α and ARF from exon 1β.

neg: Center for Applied Genomics tumors and 919 controls. They identified an area on chromosome 5 as a major risk factor for the disease, which was in the region of a gene called SPRY4. A specific copy of this gene is associated with a 40% greater chance of testicular cancer. Even more strikingly, they identified a region in chromosome 12 within a gene called KITLG. Patients with a specific form of the KITLG gene were much more likely to have testicular cancer – each copy of the gene-form increased risk of testicular cancer threefold. This represents one of the largest effect sizes reported in cancer.

neg: Medullary thyroid cancer is called multiple endocrine neoplasia type 2 (MEN2). It was first characterized in 1959. The major clinical symptom of metastatic medullary thyroid carcinoma is diarrhea; occasionally a patient will have flushing episodes. Both occur particularly with liver metastasis, and either symptom may be the first manifestation of the disease. The flushing that occurs in medullary thyroid carcinoma is indistinguishable from that associated with carcinoid syndrome. In MTC, the flushing, diarrhea, and itching (pruritus) are all caused by elevated levels of calcitonin gene products (calcitonin or calcitonin gene-related peptide). Alternatively, the flushing and diarrhea observed in carcinoid syndrome is caused by

neg: Niemann–Pick disease, SMPD1-associated clotting (platelets). The brain is not affected in Type B and the disease often presents in the pre-teen years. Niemann–Pick disease, SMPD1-associated Niemann–Pick disease, SMPD1-associated refers to two different types of Niemann–Pick disease which are associated with the SMPD1 gene. There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form. Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B. Mutations in the SMPD1 gene cause Niemann–Pick Types A and B. This gene carries instructions

neg: MIAT (gene) MIAT (gene) MIAT (myocardial infarction associated transcript), also known as RNCR2 (retinal non-coding RNA 2) or Gomafu, is a long non-coding RNA. Single nucleotide polymorphisms (SNPs) in MIAT are associated with a risk of myocardial infarction. It is expressed in neurons, and located in the nucleus. It plays a role in the regulation of retinal cell fate specification. Crea and collaborators have shown that MIAT is highly up-regulated in aggressive prostate cancer samples, raising the possibility that this gene plays a role in cancer progression. The MIAT gene is located on Chromosome 22 and is 30,051 bases in length. MIAT's

neg: ERBB4 and betacellulin. Ligand binding induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Other single-nucleotide polymorphisms and a risk haplotype have been linked to schizophrenia. Single-nucleotide polymorphisms in ERBB4 have also been found in a study of patients with familial amyotrophic lateral sclerosis type 19. ERBB4 has been shown to interact with: ERBB4 Receptor tyrosine-protein kinase erbB-4 is an enzyme that in humans is encoded by the "ERBB4" gene. Alternatively spliced variants that encode different

neg: KDM4A associated with chromosomal instability that leads to cancer.() KDM4A Lysine-specific demethylase 4A is an enzyme that in humans is encoded by the "KDM4A" gene. This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein with a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily. It functions as a trimethylation-specific demethylase, converting specific trimethylated histone on histone H3 lysine 9 and 36 residues to the dimethylated form and lysine 9 dimethylated residues to monomethyl, and as a transcriptional

neg: Endometrial cancer subtypes of endometrioid adenocarcinoma with similar prognoses, including villoglandular, secretory, and ciliated cell variants. There is also a subtype characterized by squamous differentiation. Some endometrioid adenocarcinomas have foci of mucinous carcinoma. The genetic mutations most commonly associated with endometrioid adenocarcinoma are in the genes PTEN, a tumor suppressor; PIK3CA, a kinase; KRAS, a GTPase that functions in signal transduction; and CTNNB1, involved in adhesion and cell signaling. The CTNNB1 (beta-catenin) gene is most commonly mutated in the squamous subtype of endometrioid adenocarcinoma. Serous carcinoma is a Type II endometrial tumor that makes up 5–10% of diagnosed endometrial cancer and is

neg: Carney complex heart, usually in the skin and breast. Endocrine tumors may manifest as disorders such as Cushing syndrome. The most common endocrine gland manifestation is an ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). The LAMB acronym refers to lentigines, atrial myxomas, and blue nevi. NAME refers to nevi, atrial myxoma, myxoid neurofibromas, and ephelides. Testicular cancer, particularly Sertoli cell type, is associated with Carney syndrome. Thyroid and pancreas cancer may also occur. Although J Aidan Carney also described Carney's triad it is entirely different. Carney complex is most commonly caused by mutations in the PRKAR1A gene on

neg: Calcitriol receptor as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding the same protein. The vitamin D receptor plays an important role in regulating the hair cycle. Loss of VDR is associated with hair loss in experimental animals. Experimental studies have shown that the unliganded VDR interacts with regulatory regions in cWnt (wnt signaling pathway) and sonic hedgehog target genes and is required for

neg: PPAP2B PPAP2B Lipid phosphate phosphohydrolase 3 (LPP3), also known as phospholipid phosphatase 3 (PLPP3) and phosphatidic acid phosphatase type 2B (PAP-2b or PPAP2B), is an enzyme that in humans is encoded by the "PPAP2B" gene on chromosome 1. It is ubiquitously expressed in many tissues and cell types. LPP3 is a cell-surface glycoprotein that hydrolyzes extracellular lysophosphatidic acid (LPA) and short-chain phosphatidic acid. Its function allows it to regulate vascular and embryonic development by inhibiting LPA signaling, which is associated with a wide range of human diseases, including cardiovascular disease and cancer, as well as developmental defects. The PPAP2B gene also

neg: Telomerase reverse transcriptase characterized by increased telomerase activity. Lung cancer is the most well characterized type of cancer associated with telomerase. There is a lack of substantial telomerase activity in some cell types such as primary human fibroblasts, which become senescent after about 30–50 population doublings. There is also evidence that telomerase activity is increased in tissues, such as germ cell lines, that are self-renewing. Normal somatic cells, on the other hand, do not have detectable telomerase activity. Since the catalytic component of telomerase is its reverse transcriptase, hTERT, and the RNA component hTERC, hTERT is an important gene to investigate in terms

neg: Glycogen phosphorylase V, McArdle's Disease). More than 65 mutations in the PYGM gene that lead to McArdle disease have been identified to date. Symptoms of McArdle disease include muscle weakness, myalgia, and lack of endurance, all stemming from low glucose levels in muscle tissue. Mutations in the liver isoform of glycogen phosphorylase (PYGL) are associated with Hers' Disease (glycogen storage disease type VI). Hers' disease is often associated with mild symptoms normally limited to hypoglycemia, and is sometimes difficult to diagnose due to residual enzyme activity. The brain isoform of glycogen phosphorylase (PYGB) has been proposed as a biomarker for gastric cancer.

neg: Sex-linked barring behavior starts again, creating alternating pigmented and apigmented bars. Mutations in "CDKN2A" have been associated with the occurrence of familial melanoma in humans. Changes in its gene product ARF often cause the cell to lose their ability for self-induced cell death or cell cycle arrest, which are mechanisms of cells to manage uncontrolled cell divisions and therefore the occurrence of cancer. It is intriguing that chickens carrying the "B1" or "B2" allele with a malfunctioning ARF do not show any higher prevalence to any type of cancer and are usually considered very sturdy and easy to keep breeds. It is

neg: Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer Associations Searcher" is based on tumor type. This database shows raw data. It is very reliable as each case is manually collected by prominent experts: Felix Mitelman, Bertil Johansson, and Fredrik Mertens. Taking in consideration all the progress made in cancer cytogenetics, it would have been much slower without the Mitelman database." The database was last updated on August 23, 2017, with a total number of cases = 67,625, and a total number of gene fusions = 10,933 Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer The Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer is

neg: Mutation heat, or chemical (molecules that misplace base pairs or disrupt the helical shape of DNA). Mutagens associated with cancers are often studied to learn about cancer and its prevention. A hypomorphic mutation is a replacement of amino acids that would hinder enzyme activity, which would reduce the enzyme level but not to the point of complete loss. Usually, hypomorphic mutations are recessive, but haploinsufficiency causes some alleles to be dominant. A hypermorphic mutation changes the regulation of the gene and causes it to overproduce the gene produce causing a greater than normal enzyme levels. These type of alleles are dominant

neg: Duane syndrome the CHN1 gene and in others it is associated with variants in the MAFB gene. Duane's syndrome has three variants: The first type is more common and accounts for 85% of the cases. In the clinical setting, the principal difficulties in differential diagnosis arise as a consequence of the very early age at which patients with this condition first present. The clinician must be persistent in examining abduction and adduction, and in looking for any associated palpebral fissure changes or head postures, when attempting to determine whether what often presents as a common childhood squint (note-"squint" is a British term

neg: Cancer screening against screening for skin cancer, and bladder cancer. Routine screening is not recommended for testicular cancer, and ovarian cancer. Full body CT scans are available for cancer screening, but this type of medical imaging to search for cancer in people without clear symptoms can create problems such as increased exposure to ionizing radiation. However, magnetic resonance imaging (MRI) scans are not associated with a radiation risk, and MRI scans are being evaluated for their use in cancer screening. There is a significant risk of detection of what has been called "incidentalomas" - benign lesions that may be interpreted as a

neg: EML4-ALK positive lung cancer of up to 35%. "EML4-ALK" gene fusions occur almost exclusively in carcinomas arising in non-smokers. About 4% of non-small-cell lung carcinomas involve an EML4-ALK tyrosine kinase fusion gene. 4–6% of lung adenocarcinomas involve the fusion gene. "EML4-ALK" mutation rarely occurs in combination with "K-RAS" or "EGFR" mutations. EML4-ALK positive lung cancer EML4-ALK positive lung cancer is a primary malignant lung tumor whose cells contain a characteristic abnormal configuration of DNA wherein the "echinoderm microtubule-associated protein-like 4" ("EML4") gene is fused to the "anaplastic lymphoma kinase" ("ALK") gene. This abnormal gene fusion leads to the production of a protein (EML4-ALK) that

neg: Polysomy 7 easier to detect and could be used to prevent patients from having unnecessary cancer treatment. Tetrasomy and hexasomy 8 are rare compared to trisomy 8, which is the most common karyotypic finding in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). AML, MDS, or myeloproliferative disorder (MPD) with a high incidence of secondary diseases and a six-month survival rate are associated with a polysomy 8 syndrome. Overexpression of the HER2/neu gene on chromosome 17 and some type of polysomy has been reported in 8-68% of breast carcinomas. If theHER-2/neu gene does not amplify in the case of polysomy, proteins

neg: UXT proteins that assemble into molecular chaperone complexes to affect protein folding. ART-27 is shown to be subject to both cell type and developmental regulation in humans. Its expression is associated with an abundance of differentiated prostate epithelial cells, and regulated expression in prostate cancer cells results in decreased cell proliferation. Significantly, because decreased levels of ART-27 are consistently found in prostate cancer cells, it likely plays a role in promoting epithelial differentiation via suppression of proliferative pathways. More recent studies have more definitively identified ART-27 as a corepressor of AR. The fact that the increase in gene transcription exhibited upon

neg: Gene silencing Alzheimer's disease and autism spectrum disorders. Gene silencing techniques have been widely used by researchers to study genes associated with disorders. These disorders include cancer, infectious diseases, respiratory diseases, and neurodegenerative disorders. Gene silencing is also currently being used in drug discovery efforts, such as synthetic lethality, high-throughput screening, and . RNA interference has been used to silence genes associated with several cancers. In "in vitro" studies of chronic myelogenous leukemia (CML), siRNA was used to cleave the fusion protein, BCR-ABL, which prevents the drug Gleevec (imatinib) from binding to the cancer cells. Cleaving the fusion protein reduced the amount

neg: Carlos Cordon-Cardo is also present in normal cells and is exploited by cancer cells to survive chemotherapy. In 1990, he was among the first to show that the mutated gene (RB) which causes the childhood cancer retinoblastoma is also present in some adults with sarcomas but no history of retinoblastoma. He also found that the presence of the mutated gene in adult cancers was associated with a poor clinical outcome. His 1994 research in collaboration with Arnold J. Levine was one of the first examples of how mutations in the gene which regulates the tumor suppressor p53 can lead to cancer by

neg: RET proto-oncogene RET proto-oncogene The RET proto-oncogene encodes a receptor tyrosine kinase for members of the glial cell line-derived neurotrophic factor (GDNF) family of extracellular signalling molecules. "RET" loss of function mutations are associated with the development of Hirschsprung's disease, while gain of function mutations are associated with the development of various types of human cancer, including medullary thyroid carcinoma, multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia. "RET" is an abbreviation for "rearranged during transfection", as the DNA sequence of this gene was originally found to be rearranged within a 3T3 fibroblast cell line following its transfection with

neg: Migration inducting gene 7 n=89) cancers. Mig-7 is thought to promote carcinoma cell invasion, metastasis and tumor growth through vasculogenic mimicry, a process where tumor cells form channels for fluids to flow through. It also promotes epithelial–mesenchymal transition (EMT), a key developmental program that is often activated during, and required for, cancer invasion/metastasis. Mig-7 induces EMT through hyperactivation of Akt and extracellular regulated Kinase ERK1/2 by inhibiting the tumor suppressor protein phosphate 2A. Mig-7 has been associated with signaling pathways downstream of epithelial type cancer-promoting kinases. It is expressed prior to TWIST, the previously named “master regulator” of EMT. It has also been shown

neg: Ovarian cancer MLH6, PMS1", and "PMS2". The risk of ovarian cancer for an individual with Lynch syndrome is between 10 and 12 percent. People of Icelandic descent, European Jewish descent/Ashkenazi Jewish descent, and Hungarian descent are at higher risk for epithelial ovarian cancer. Estrogen receptor beta gene (ESR2) seems to be a key to pathogenesis and response to therapy. Other genes that have been associated with ovarian cancer are "BRIP1", "MSH6", "RAD51C" and "RAD51D". "CDH1", "CHEK2", "PALB2" and "RAD50" have also been associated with ovarian cancer. Several rare genetic disorders are associated with specific subtypes of ovarian cancer. Peutz–Jeghers syndrome, a rare

neg: Migration inducting gene 7 returns ERK1/2, Akt, GSK, and S6 kinase to normal phosphorylation states through reactivation of PP2A. Migration inducting gene 7 Migration inducting gene 7 (Mig-7 or Mig7) is a gene. The protein is cysteine-rich, and localized to the cell membrane and cytoplasm. It is the first-in-class of novel proteins translated from what are thought to be long Non-coding RNAs. Induction of Mig-7 expression occurs downstream of Epidermal growth factor/Epidermal growth factor receptor, Cox-2/PGE-2 or Hepatocyte growth factor/c-Met activation and signalling. Data has shown that Mig-7 expression is specific to human embryonic/fetal cytotrophoblast cells and epithelial type cancer cells, while not expressed

neg: David Altshuler on the genetic basis of Type 2 Diabetes, and his laboratory contributed to mapping dozens of gene variants that are associated with risk of Type 2 Diabetes, lipid levels, myocardial infarction, rheumatoid arthritis, lupus, prostate cancer, and other disorders. Among his awards are election to the American Society for Clinical Investigation, the Association of American Physicians, and the Institute of Medicine. He is a member of the Board of Directors of the American Society of Human Genetics and was previously a member of the board of Vertex Pharmaceuticals. In 2011 he won the Curt Stern Award of the American Society

neg: ZNF703 positive cells associated with colon cancer. ZNF703 also experiences target regulation of cancer cells through the transcription of RNA SPRY4-It1. RNA SPRY4-IT1 is a non-coding gene responsible for preventing apoptosis and generating large tumors. Researchers recently established a link between the trigger gene ZNF703 and Akt/mTOR pathway activation involved in the cellular cycle resulting in lung tumor formation. The lifespan of individuals with colorectal cancer and luminal cancer have different prognosis depending on the amount of expression of the ZNF703 gene. Low amounts of transcription of ZNF703 usually leads to a healthier prognosis than individuals experiencing higher levels of transcription

neg: Cancer syndrome enhance the survival of cells, leading to cancer. Most cases of familial paraganglioma are caused by mutations in the succinate dehydrogenase (SDH; succinate:ubiquinone oxidoreductase) subunit genes (SDHD, SDHAF2, SDHC, SDHB). PGL-1 is associated with SDHD mutation, and most PGL-1 individuals with paraganglioma have affected fathers rather than affected mothers. PGL1 and PGL2 are autosomal dominant with imprinting. PGL-4 is associated with SDHB mutation, and is associated with a higher risk of pheochromocytoma, as well as renal cell cancer and non-medullary thyroid cancer. Li-Fraumeni syndrome is an autosomal dominant syndrome primarily caused by mutations in the TP53 gene, which greatly increases

neg: Niemann–Pick disease, SMPD1-associated Niemann–Pick disease, SMPD1-associated Niemann–Pick disease, SMPD1-associated refers to two different types of Niemann–Pick disease which are associated with the SMPD1 gene. There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form. Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B. Mutations in the SMPD1 gene cause Niemann–Pick Types A and B. This gene carries instructions for cells to produce a lysosomal enzyme called acid sphingomyelinase. Insufficient activity of the enzyme acid sphingomyelinase causes the

neg: Solute carrier family 25 member 22 of the encoded protein was associated with decreased survival times in colorectal cancer patients. Knockdown of this gene in mutant colorectal cells decreased their migration, proliferation, and invasion. The encoded protein interacts with SLC38A1, NDUFAF4, and 43 other proteins. Solute carrier family 25 member 22 Solute carrier family 25 member 22 is a protein that in humans is encoded by the "SLC25A22" gene. This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Expression of this gene is increased in colorectal tumor cells. The "SLC25A22" gene is located on the p arm

neg: EML4-ALK positive lung cancer EML4-ALK positive lung cancer EML4-ALK positive lung cancer is a primary malignant lung tumor whose cells contain a characteristic abnormal configuration of DNA wherein the "echinoderm microtubule-associated protein-like 4" ("EML4") gene is fused to the "anaplastic lymphoma kinase" ("ALK") gene. This abnormal gene fusion leads to the production of a protein (EML4-ALK) that appears, in many cases, to promote and maintain the malignant behavior of the cancer cells. The transforming "EML4-ALK" fusion gene was first reported in non-small cell lung carcinoma (NSCLC) in 2007. Most lung carcinomas containing the "EML4-ALK" gene fusion are adenocarcinomas. Some studies suggest that the papillary

neg: Endometrial cancer 20% of endometrioid and serous carcinomas. CTNNB1 (beta-catenin; a transcription gene) mutations are found in 14–44% of endometrial cancers and may indicate a good prognosis, but the data is unclear. Beta-catenin mutations are commonly found in endometrial cancers with squamous cells. FGFR2 mutations are found in approximately 10% of endometrial cancers, and their prognostic significance is unclear. SPOP is another tumor suppressor gene found to be mutated in some cases of endometrial cancer: 9% of clear cell endometrial carcinomas and 8% of serous endometrial carcinomas have mutations in this gene. Type I and Type II cancers (explained below) tend to

neg: Vectors in gene therapy transcribed just like any other gene. The only difference is that these extra genes are not replicated when the cell is about to undergo cell division so the descendants of that cell will not have the extra gene. As a result, treatment with the adenovirus will require readministration in a growing cell population although the absence of integration into the host cell's genome should prevent the type of cancer seen in the SCID trials. This vector system has been promoted for treating cancer and indeed the first gene therapy product to be licensed to treat cancer, Gendicine, is an adenovirus.

neg: TANGO1/MIA3 a role in the metastasis of melanomas as well as cartilage development. It has been established that melanoma inhibitory gene family members serve several tumor-related functions that are subjected to a variety of human malignancies. It was found that melanoma inhibitory activity gene family members are frequently expressed in human tumors such as squamous cell carcinoma, esophageal squamous cell carcinoma, lung cancer with nodal or distant metastasis and cervical cancer. In addition, melanoma inhibitory activity gene family expression is also associated with poor prognosis among cancer patients overall. Nevertheless, further research is needed to determine the association between melanoma inhibitory

neg: RNA interference in a certain type of way, such as by downgrading suppression of gene expression. In a single cancer cell, siRNA can cause dramatic suppression of gene expression with just several copies. This happens by silencing cancer-promoting genes with RNAi, as well as targeting an mRNA sequence. RNAi drugs treat cancer by silencing certain cancer promoting genes. This is done by complementing the cancer genes with the RNAi, such as keeping the mRNA sequences in accordance with the RNAi drug. Ideally, RNAi is should be injected and/or chemically modified so the RNAi can reach cancer cells more efficiently. RNAi uptake and