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• W1980213718 endingPage "1064" @default.
• W1980213718 startingPage "1058" @default.
• W1980213718 abstract "Factors predictive of carrying MLH1 and MSH2 germline mutations in patients with colorectal cancer (CRC) are as yet unknown. The aim of this population-based study, was to further define the role of MLH1/MSH2 mutations through an evaluation clinic program with 362 consecutive Sardinian CRC patients. Eight MLH1/MSH2 germline mutations were detected in 21 (6%) patients. Examining family cancer history, MLH1/MSH2 mutations were found in 14/48 (29.2%) probands from CRC families and, among them, in 10/13 (76.9%) families fulfilling the Amsterdam criteria. The patients with low familial recurrence (two CRCs in the family) presented a much lower frequency of MLH1/MSH2 mutations (2/55; 3.6%). Significantly higher rates of MLH1/MSH2 mutations were found in patients with age of onset ⩽45 years (P = 0.012) or with ⩾3 affected family members (P = 0.009). While no significant predictive value was found for the presence of endometrial cancer within the family, earlier age of diagnosis and/or familial CRC recurrence should be considered as strong predictors for the occurrence of MLH1/MSH2 mutations, and therefore useful in recommending CRC patients for genetic testing." @default.
• W1980213718 created "2016-06-24" @default.
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• W1980213718 date "2005-05-01" @default.
• W1980213718 modified "2023-10-02" @default.
• W1980213718 title "Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma" @default.
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• W1980213718 doi "https://doi.org/10.1016/j.ejca.2005.01.013" @default.
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