Article
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
Cancer medicine - 1 May 2018
Schneider Nayê Balzan, Pastor Tatiane, Paula André Escremim de, Achatz Maria Isabel, Santos Ândrea Ribeiro Dos, Vianna Fernanda Sales Luiz, Rosset Clévia, Pinheiro Manuela, Ashton-Prolla Patricia, Moreira Miguel Ângelo Martins, Palmero Edenir Inêz
Abstract excerpt
Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2. Recently, germline deletions in EPCAM have been also associated to the syndrome. Most of the pathogenic MMR mutations found in LS families occur in MLH1 or MSH2. Gene variants include missense, nonsense,...
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