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Article

Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.

Journal of human genetics - 1 Jun 2022

Macquere P, Orazio S, Bonnet F, Jones N, Bubien V, Chiron J, Lafon D, Barouk-Simonet E, Tinat J, Venat-Bouvet L, Gesta P, Longy M, Sevenet N

Abstract excerpt

Pathogenic Variants (PV) in major cancer predisposition genes are only identified in approximately 10% of patients with Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Next Generation Sequencing (NGS) leads to the characterization of incidental variants in genes other than those known to be associated with HBOC syndrome. The aim of this study was to determine if such incidental PV were specific to a...

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PMID: 35017683
DOI: 10.1038/s10038-022-01014-3

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