Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing

Although the probability of both parents being affected by BRCA1 mutations is not negligible, such families have not been systematically described in the literature. Here we present a large breast-ovarian cancer family, where 3 sisters and 1 half-sister inherited maternal BRCA1 5382insC mutation whi...

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Detalles Bibliográficos
Autores principales: Sokolenko, Anna P, Voskresenskiy, Dmitry A, Iyevleva, Aglaya G, Bit-Sava, Elena M, Gutkina, Nadezhda I, Anisimenko, Maxim S, Yu Sherina, Nathalia, Mitiushkina, Nathalia V, Ulibina, Yulia M, Yatsuk, Olga S, Zaitseva, Olga A, Suspitsin, Evgeny N, Togo, Alexandr V, Pospelov, Valery A, Kovalenko, Sergey P, Semiglazov, Vladimir F, Imyanitov, Evgeny N
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653717/
https://www.ncbi.nlm.nih.gov/pubmed/19338681
http://dx.doi.org/10.1186/1897-4287-7-2

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