Value of the loss of heterozygosity to BRCA1 variant classification

Value of the loss of heterozygosity to BRCA1 variant classification

Abstract At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging. As a typical tumor suppressor gene, the inactivation of the second wild-type (WT) BRCA1 allel...

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Bibliographic Details
Main Authors: Elizabeth Santana dos Santos, Amanda B. Spurdle, Dirce M. Carraro, Adrien Briaux, Melissa Southey, Giovana Torrezan, Ambre Petitalot, Raphael Leman, Philippe Lafitte, kConFab Investigators, Didier Meseure, Keltouma Driouch, Lucy Side, Carole Brewer, Sarah Beck, Athalie Melville, Alison Callaway, Françoise Revillion, Maria A. A. Koike Folgueira, Michael T. Parsons, Heather Thorne, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Ivan Bieche, Sandrine M. Caputo, Etienne Rouleau
Format: Article
Language:English
Published: Nature Portfolio 2022-01-01
Series:npj Breast Cancer
Online Access:https://doi.org/10.1038/s41523-021-00361-2

Internet

https://doi.org/10.1038/s41523-021-00361-2

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