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

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 well...

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Bibliographic Details
Main Authors: R. Graffeo, H.Q. Rana, F. Conforti, B. Bonanni, M.J. Cardoso, S. Paluch-Shimon, O. Pagani, A. Goldhirsch, A.H. Partridge, M. Lambertini, J.E. Garber
Format: Article
Language:English
Published: Elsevier 2022-10-01
Series:Breast
Subjects:
Moderate genes
ATM
CHEK2
BARD1
RAD51D
Polygenic risk score
Online Access:http://www.sciencedirect.com/science/article/pii/S0960977622001047

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http://www.sciencedirect.com/science/article/pii/S0960977622001047

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