Article
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
Journal of medical genetics - 1 Sept 2004
Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French A J, Westra J, Frebourg T, Espín E, Armengol M, Hamelin R, Yamamoto H, Hofstra R M W, Seruca R, Lindblom A, Peltomäki P, Thibodeau S N, Aaltonen L A, Schwartz S
Abstract excerpt
BACKGROUND: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours showing high microsatellite instability (MSI-H) should receive genetic counselling and be offered testing for germline mutations in DNA repair genes, mainly MLH1 and MSH2. Recently, an oncogenic V600E hotspot mutation...
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