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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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: 2011
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Article
Online pristup: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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