Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients

作者: Monica Marabelli , Valeria Molinaro , Raefa Abou Khouzam , Enrico Berrino , Mara Panero

DOI: 10.1089/GTMB.2016.0198

关键词:

摘要: Aims: Colorectal adenomatous polyposis entailing cancer predisposition is caused by constitutional mutations in different genes. APC associated with the familial (FAP/AFAP) and MUTYH MUTYH-associated (MAP), while POLE POLD1 cause polymerase proofreading-associated (PPAP). Methods: We screened for patients multiple adenomas/FAP: 121 were analyzed mutations, 36 also evaluated gene mutations. Results: found 20 FAP/AFAP, 15 MAP, no PPAP subjects: pathogenic proved to be heterogeneous, included 5 1 novel The mutation detection rate was significantly between 5–100 polyps those >100 (p = 8.154 × 10−7), being an aggressive phenotype (p = 1.279 × 10−9). Mean age at diagnosis lower FAP/AFAP compared MAP (p = 3.055 × 10−4). Mutation-neg...

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