Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0699790 (colon cancer)
 28,837 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Major risks conferred by BRCA1 and BRCA2 in women are for cancers of the breast, ovary, fallopian tube, and peritoneum. Male carriers of mutations in BRCA1 or BRCA2 are also susceptible to cancer; however, their risks remain poorly understood and their optimal clinical management has not yet been defined. This article reviews studies that estimate risk associated with mutations in BRCA1 or BRCA2, with a focus on the cancer sites most relevant to men. Male BRCA1 mutation carriers are at increased risk of cancers of the prostate and breast. Evidence supporting increased susceptibility to colon cancer is limited. In contrast to women, who have a greater lifetime risk of cancer with mutations of the BRCA1 gene, BRCA2 is the more important gene for men. The spectrum of cancers is wide for BRCA2 and some studies report that the overall cancer risk for male BRCA2 carriers exceeds the risk for female carriers. In particular, the relative risk to male BRCA2 mutation carriers is high before age 65 years, largely attributable to breast, prostate, and pancreatic cancers. BRCA2 mutation carriers are also at risk of stomach cancer and melanoma (of the skin and eye). Additional research into risks to male BRCA1 or BRCA2 mutation carriers is necessary, specifically to determine the magnitude of excess cancer risk among BRCA2 carriers and to increase our understanding of the basis for the observed site-specificity in cancer development.
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PMID:Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. 1496 99

Five percent to ten percent of ovarian cancers are hereditary. Individual genetic risk of developing ovarian malignancy is discussed in women. Currently, prophylactic surgery is advised to women with a moderate to high risk of developing ovarian cancer. Workload and outcome of the multidisciplinary familial ovarian screening clinic in South Wales were assessed. This was an observational study of 145 women registered with the Familial Ovarian Screening Clinic between January 1998 and December 2003. The data were retrieved from the medical notes. Yearly follow-ups were investigated with a transvaginal scan and CA125 level. Post-surgery women were followed up with yearly CA125 estimations: 46.9% fell into moderate-risk and 50.3% into high-risk category. The median age was 42 (SD 10.4), 71.7% were pre menopausal, and 10.3% had a personal history of breast cancer and 1.4% colon cancer. Whereas 36.5% opted for surgery, the remaining women (but two) opted for annual follow-up. Histology of the women who had surgery showed three cases of malignancies (fallopian tube carcinoma, atypical ovarian epithelial cells, and metastatic breast cancer). Seven women developed breast cancer during the observation period. The follow-up period is too short to come to a final conclusion as to the benefits of yearly screening in this group of women. In our series, a significant number of patients developed malignancies, despite prophylactic surgery.
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PMID:Screening for familial ovarian cancer--management and outcome of women with moderate to high risk of developing ovarian cancer. 1651 73

ADAMTSL3/punctin-2 is a secreted glycoprotein that resembles the ADAMTS proteases. Recently, identification of frequent ADAMTSL3 mutations in colorectal cancer suggested it might have a regulatory role in cellular homeostasis in colorectal epithelium or in pathways to colorectal malignancy. Here, we used in situ hybridization to validate ADAMTSL3 antibodies for IHC of a variety of normal and malignant tissues, including colon cancer. Quantitative real-time PCR (RTQ-PCR) was used to compare mRNA expression levels in colon carcinoma (n = 10) and adjacent normal colon. ADAMTSL3 is expressed in epithelial cells of the colon, fallopian tube, skin, breast, prostate, epididymis, liver, pancreatic islets and bile ducts, as well as by vascular endothelial cells, smooth muscle cells, fibroblasts, cortical and ganglionic neurons and cardiac myocytes. Malignant epithelial cells in colon cancer, as well as breast, prostate, renal and skin tumors expressed ADAMTSL3. Normal colon showed stronger immunostaining of surface than basal crypt epithelium and staining of a variety of cells within the lamina propria and submucosa. Colon carcinomas demonstrated weaker staining in tumor cells than normal colon epithelium and weak stromal staining. RTQ-PCR comparison of ADAMTSL3 mRNA in colon carcinoma and adjacent normal colon demonstrated a statistically significant reduction in the tumors, possibly reflecting their decreased stromal content and lack of complete differentiation of tumor samples. The major findings of these studies are that ADAMTSL3 is expressed in numerous tissues, suggesting a broader regulatory role than in colorectal epithelium alone, and that colorectal cancer has both structural mutations as well as decreased expression of ADAMTSL3.
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PMID:ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer. 1759 11