Which Genes for Hereditary Breast Cancer?
Menée à partir du séquençage de l'ADN d'échantillons tissulaires prélevés sur 60 466 patientes atteintes d'un cancer du sein et 53 461 témoins en bonne santé, cette étude identifie des gènes de susceptibilité à différents sous-types de la maladie et détermine ceux pouvant être utilisés cliniquement pour prédire le risque de développer la maladie
Results of two large case–control studies that analyzed the associations between a number of putative cancer susceptibility genes and breast cancer risk are now reported in the Journal. The study by Dorling et al.1 included 34 genes and 113,000 women from 25 countries, and the study by Hu et al.2 included 28 genes and 64,000 women from the United States. Variants in 8 genes — BRCA1, BRCA2, PALB2, BARD1, RAD51C, RAD51D, ATM, and CHEK2 — had a significant association with breast cancer risk in both studies. In addition, there was a significant association for variants in MSH6 in the international . . .
New England Journal of Medicine , éditorial, 2020