Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.

Thirty-seven families with four or more cases of breast cancer or breast and ovarian cancer were analyzed for mutations in BRCA1. Twelve different germ-line mutations, four novel and eight previously observed, were detected in 16 families. Five families of Ashkenazi Jewish descent carried the 185del...

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Autores principales: Friedman, L S, Szabo, C I, Ostermeyer, E A, Dowd, P, Butler, L, Park, T, Lee, M K, Goode, E L, Rowell, S E, King, M C
Formato: Artigo
Lenguaje:Inglês
Publicado: 1995
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801403/
https://ncbi.nlm.nih.gov/pubmed/8533757
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