Article
A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one.
Familial cancer - 1 Sept 2011
Kantelinen Jukka, Hansen Thomas V O, Kansikas Minttu, Krogh Lotte Nylandsted, Korhonen Mari K, Ollila Saara, Nyström Minna, Gerdes Anne-Marie, Kariola Reetta
Abstract excerpt
Inherited pathogenic mutations in the mismatch repair (MMR) genes, MSH2, MLH1, MSH6, and PMS2 predispose to Lynch syndrome (LS). However, the finding of a variant or variants of uncertain significance (VUS) in affected family members complicates the risk assessment. Here, we describe a putative LS family carrying VUS in both MSH2 (c.2768T>A, p.Val923Glu) and MSH6 (c.3563G>A, p.Ser1188Asn). Two colorectal cancer...
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