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Need of new clinical criteria for the identification of genetic Lynch syndrome.
Sousa, Rita; Lage, Pedro; Ferreira, Sara; Claro, Isabel; Francisco, Inês; Filipe, Bruno; Albuquerque, Cristina; Suspiro, Alexandra; Rodrigues, PaulaSurveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality. There are multiple clinical criteria for the identification of these families, mainly: the Amsterdam Criteria (ACI), the modified Amsterdam Criteria (ACII) and the Bethesda Guidelines (BG).To correlate, in families with HNPCC, the clinical c...
MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC...
De Ferro, Susana Mão; Lage, Pedro; Suspiro, Alexandra; Fidalgo, Paulo; Fragoso, Sofia; Baltazar, Célia; Vitoriano, Inês; Rodrigues, PaulaMYH-associated polyposis (MAP) is an autosomal recessive disease associated with multiple colonic adenomas and colorectal cancer. Y165C and G382D MYH missense mutations are involved in more than 80% of cases in Caucasians and the large series published do not include patients homozygous for other mutations. We present the report of two siblings homozygous for the nonsense frameshift mutation 1103delC. The proba...
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