Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome

Founder mutations are an important cause of Lynch syndrome and facilitate genetic testing in specific ethnic populations. Two putative founder mutations in MSH6 were analyzed in 2685 colorectal cancer (CRC) cases, 337 endometrial cancer (EnCa) cases and 3310 healthy controls of Ashkenazi Jewish (AJ)...

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Publicado en:Clin Genet
Autores principales: Raskin, Leon, Schwenter, Frank, Freytsis, Marina, Tischkowitz, Marc, Wong, Nora, Chong, George, Narod, Steven A., Levine, Douglas A., Bogomolniy, Faina, Aronson, Melyssa, Thibodeau, Stephen N., Hunt, Katherine S., Rennert, Gad, Gallinger, Steven, Gruber, Stephen B., Foulkes, William D.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4541773/
https://ncbi.nlm.nih.gov/pubmed/21155762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01594.x
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