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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Detalles Bibliográficos
Autores principales: Maksimenko, J., Irmejs, A., Trofimovičs, G., Bērziņa, D., Skuja, E., Purkalne, G., Miklaševičs, E., Gardovskis, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989401/
https://www.ncbi.nlm.nih.gov/pubmed/29928469
http://dx.doi.org/10.1186/s13053-018-0094-0

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