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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Publicat a:Clin Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Article
Accés en línia: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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