Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0476089 (endometrial cancer)
 11,379 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The family histories of 130 individuals with documented hereditary non-polyposis colorectal cancer (HNPCC) (caused by mutations in mismatch-repair (MMR) genes MSH2 (n = 64), MLH1 (n = 62) or MSH6 (n = 4)) were obtained, and incidence of cancers in those families was compared to that in the general population. There were a total of 982 cancers in 723 individuals. Colorectal cancer (CRC) was the commonest type (64% and 55% in individuals from families with germline MLH1 and MSH2 mutations respectively). Median age at diagnosis of first CRC in MSH6 mutation families was 59 years compared to 45 years in both MLH1 and MSH2 mutation families. The relative risk (RR) of endometrial cancer was 55 in MSH2 mutation families, compared with 27 in MLH1 mutation families, and 37 in MSH6 mutation families; median age at diagnosis 49 years. Even within MSH2 families, endometrial cancer tended to cluster, with 28 of the 58 cases coming from families with three or more cases (P < 0.001). Absolute risk of endometrial cancer in MLH1 families was still greater than any other cancer (other than CRC). 5% of cancers in both MLH1 and MSH2 mutation families were gastric (RR = 12); 53% of these were diagnosed before 50 years. Seven cases of small intestinal cancer occurred in MSH2 and MLH1 mutation families (RR = 26). There were 13 cases of cancer of the ureter; all were in MSH2 families. These cancers tended to cluster within families (P < 0.001); three of seven families with urothelial cancer had such cases in two or more individuals; two others had kidney cancer. Nineteen of 27 ovarian cancers (70%) were in MSH2 mutation families and 70% of these were diagnosed before age 50 years. There were 9 cases of sebaceous skin cancer, 3 in two MLH1 and 6 in four MSH2 mutation families. Of 22 pancreatic cancers, 14 were known to be diagnosed before 60 years. Breast cancer RR was 1.7 overall. The type of mutation (truncating or other type, and site of mutation) showed no obvious correlation with the presence or absence of extra-colonic cancers in families.
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PMID:Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). 1793 62

To investigate the relationship between family history of cancer in first-degree relatives and the risk of endometrial cancer, we carried out a large multicentre case-control study in Italy between 1992 and 2006, including 454 endometrial cancer cases and 908 controls admitted in hospital for acute, non-neoplastic diseases. Conditional logistic regression was used to estimate odds ratios (ORs) and corresponding 95% confidence intervals (CI). Relative to women with no family history of uterine cancer, the ORs were 2.1 (95% CI: 0.7-6.4) for those reporting a family history of endometrial cancer and 1.8 (95% CI: 1.0-3.2) for a family history of any uterine cancer. A family history of intestinal cancer was directly associated with endometrial cancer risk (OR=1.6; 95% CI: 1.0-2.7). Direct associations were found for a few other cancer sites. In conclusion, a family history of endometrial, uterine or intestinal cancer in first-degree relatives is associated with an increased risk of endometrial cancer.
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PMID:Family history of cancer and the risk of endometrial cancer. 1933 55

Nearly 5% of colorectal cancers are related to constitutional genetic abnormalities. In Lynch Syndrome (LS), the abnormality is a mutation of the deoxyribonucleic acid (DNA) repair system. The goal of this update is to update indications and surgical strategies for patients with LS. Different spectra of disease are associated with LS. The narrow spectrum includes cancers with a high relative risk: colorectal cancer (CRC), endometrial cancer, urinary tract cancers and small intestinal cancer. The broader spectrum includes ovarian tumors, glioblastoma, cutaneous tumors (keratoacanthomas and sebaceous tumors), biliary duct tumors, and gastric tumors. The clinical diagnosis of LS was initially based on the Amsterdam I and II Criteria published in the 1990s and subsequently on the revised Bethesda Criteria, which expanded the criteria and identified patients who should be screened for LS. For patients with LS, learned societies recommend early and regular endoscopic screening because of the high incidence of CRC, i.e., every one to two years from the age of 25 and then annually from the age of 40 or starting 10 years before the age of appearance of the youngest case of CRC in the family. Professional recommendations on prophylactic surgery to prevent cancers in patients with genetic predisposition were published in 2009 under the auspices of the French National Cancer Institute and are still current. There is no formal indication for prophylactic colectomy in LS. Numerous advances have been made in the understanding of LS, allowing a better knowledge of the prevalence of CRCs and associated cancers, with better endoscopic monitoring and a decrease in the prevalence and mortality of CRC.
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PMID:Lynch Syndrome: Current management In 2019. 3144 99