PMS2 monoallelic mutation carriers: the known unknown
نویسندگان
چکیده
منابع مشابه
Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players.
Autosomal dominant cancer predisposition genes for common cancers such as breast cancer and colorectal cancer have been well recognized for over a decade. Monoallelic mutations in these genes are associated with high risks of adult-onset cancer. In recent years, it has become apparent that biallelic mutations in some of these genes, such as BRCA2, MSH2 and MLH1, result in distinctive phenotypes...
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Materials and methods We identified 144 families of MUTYH mutation carriers from three countries that we ascertained through population-based sources of the multi-site, international Colon Cancer Family Registry. Mutation status, sex, age, and histories of cancer, polypectomy, and hysterectomy were sought from 2,179 of their relatives. Using Cox regression weighted to adjust for the method of a...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2015
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2015.27