Article
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Breast cancer research : BCR - 15 Apr 2020
Van Marcke Cédric, Helaers Raphaël, De Leener Anne, Merhi Ahmad, Schoonjans Céline A, Ambroise Jérôme, Galant Christine, Delrée Paul, Rothé Françoise, Bar Isabelle, Khoury Elsa, Brouillard Pascal, Canon Jean-Luc, Vuylsteke Peter, Machiels Jean-Pascal, Berlière Martine, Limaye Nisha, Vikkula Miikka, Duhoux François P
Abstract excerpt
BACKGROUND: Multigene panels are routinely used to assess for predisposing germline mutations in families at high breast cancer risk. The number of variants of unknown significance thereby identified increases with the number of sequenced genes. We aimed to determine whether tumor sequencing can help refine the analysis of germline variants based on second somatic genetic events in the same gene. METHODS:...
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