2 documents found, page 1 of 1
Bilateral breast fibromatosis after silicone prosthetics in a patient with clas...
Silva, Sara; Lage, Pedro; Cabral, Francisco; Alves, Rui; Catarino, Ana; Félix, Ana; André, SaudadeBreast fibromatosis is a benign fibroblastic proliferation accounting for less than 0.2% of breast tumors. It presents sporadically or as a manifestation of familial adenomatous polyposis (FAP). Fibromatosis in FAP may develop in patients with adenomatous polyposis coli (APC) gene mutations at any location through the gene. Notably, there is an increased risk if mutation is downstream codon 1400. The present ca...
Carcinoma colorectal familiar de tipo X
Ferreira, Sara; Lage, Pedro; Sousa, Rita; Claro, Isabel; Francisco, Inês; Filipe, Bruno; Suspiro, Alexandra; Chaves, Paula; Rodrigues, PaulaBackground: Some families fulfilling the Amsterdam Criteria (AC) differ from the Lynch syndrome (LS) in that colorectal cancers (CRC) do not present microsatellite instability (MSI) and DNA mismatch repair gene mutations are not found. These families have been designated as Familial Colorectal Cancer type X (XS) and their genetic basis remains unknown. Aims: In families fulfilling AC for LS: 1) To perform MSI t...