OMIM Entry - # 120435 - LYNCH SYNDROME (ovarian cancer section/BRCA compare/see comment) Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Thursday, September 01, 2016

OMIM Entry - # 120435 - LYNCH SYNDROME (ovarian cancer section/BRCA compare/see comment)



Blogger's Note: also search blog for survival in Lynch syndrome women - Japanese/Finnish women

OMIM Entry

 Grindedal et al. (2010) performed a retrospective survival study of 144 women with ovarian cancer due to MMR mutations. Fifty-one (35.4%) had a mutation in MLH1, 78 (54.2%) had a mutation in MSH2, and 15 (10.4%) had a mutation in MSH6. The mean age of onset was 44.7 years, compared to 51.2 years in carriers of BRCA1 (113705) mutations with ovarian cancer and 57.5 in carriers of BRCA2 (600185) mutations with ovarian cancer (Risch et al., 2001). Most (81.5%) women with MMR mutations were diagnosed at stage 1 or 2. Twenty-nine (20.1%) of 144 woman with MMR-related ovarian cancer died of their ovarian cancer. The 5-, 10-, 20- and 30-year survival specific for deaths due to ovarian cancers were 82.7%, 80.6%, 78.0% and 71.5%, respectively. About 50% of the women developed another cancer in the HNPCC/Lynch syndrome tumor spectrum. The 5-, 10-, 20-, and 30-year survival specific for deaths due to HNPCC/Lynch syndrome-associated cancers were 79.2%, 75.7%, 68.4% and 47.3%, respectively. Overall, the survival rate for women with ovarian cancer due to MMR mutations was better than that of women with ovarian cancer due to BRCA1/2 mutations, which is less than 40% at 10 years. The lifetime risk of ovarian cancer in MMR mutation carriers was about 10% and the risk of dying from ovarian cancer was 20%, yielding an overall risk of dying from ovarian cancer of about 2% in MMR mutation carriers. Grindedal et al. (2010) suggested that mutations in the MMR and BRCA1/2 genes may predispose to biologically different types of tumors.
 26. Grindedal, E. M., Renkonen-Sinisalo, L., Vasen, H., Evans, G., Sala, P., Blanco, I., Gronwald, J., Apold, J., Eccles, D. M., Sanchez, A. A., Sampson, J., Jarvinen, H. J., Bertario, L., Crawford, G. C., Stormorken, A. T., Maehle, L., Moller, P. Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. J. Med. Genet. 47: 99-102, 2010. [PubMed: 19635727, related citations] [Full Text]

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