Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D

Breast cancer risk associated with germline likely pathogenic/pathogenic variants (PV) varies by gene, often by penetrance (high >50% or moderate 20–50%), and specific locus. Germline PVs in BRCA1 and BRCA2 play important roles in the development of breast and ovarian cancer in particular, as wel...

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Detalles Bibliográficos
Autores principales: Graffeo, R., Rana, H.Q., Conforti, F., Bonanni, B., Cardoso, M.J., Paluch-Shimon, S., Pagani, O., Goldhirsch, A., Partridge, A.H., Lambertini, M., Garber, J.E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9253488/
https://www.ncbi.nlm.nih.gov/pubmed/35772246
http://dx.doi.org/10.1016/j.breast.2022.06.003

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