Determining the frequency of de novo germline mutations in DNA mismatch repair genes

BACKGROUND: Carriers of a germline mutation in a DNA mismatch repair (MMR) gene—that is, persons with Lynch syndrome—have substantially high risks of colorectal (CRC), endometrial, and several other cancers. The proportion of carriers who have de novo mutations (not inherited from either parent) is...

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Detalhes bibliográficos
Main Authors: Win, Aung Ko, Jenkins, Mark A, Buchanan, Daniel D, Clendenning, Mark, Young, Joanne P, Giles, Graham G, Goldblatt, Jack, Leggett, Barbara A, Hopper, John L, Thibodeau, Stephen N, Lindor, Noralane M
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3436601/
https://ncbi.nlm.nih.gov/pubmed/21636617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100082
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