High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population

BACKGROUND: Pathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene variants in patients with primary breast and ovarian cancer could significan...

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Detalhes bibliográficos
Publicado no:Hered Cancer Clin Pract
Main Authors: Maksimenko, J., Irmejs, A., Trofimovičs, G., Bērziņa, D., Skuja, E., Purkalne, G., Miklaševičs, E., Gardovskis, J.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5989401/
https://ncbi.nlm.nih.gov/pubmed/29928469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13053-018-0094-0
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