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Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models

BACKGROUND: Accurate risk (penetrance) estimates for associated phenotypes in carriers of a major disease gene are important for genetic counselling of at-risk individuals. Population-specific estimates of penetrance are often needed as well. Families ascertained from high-risk disease clinics provi...

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Detalles Bibliográficos
Autores principales: Kopciuk, Karen A, Choi, Yun-Hee, Parkhomenko, Elena, Parfrey, Patrick, McLaughlin, John, Green, Jane, Briollais, Laurent
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775728/
https://www.ncbi.nlm.nih.gov/pubmed/19863818
http://dx.doi.org/10.1186/1897-4287-7-16