Effect of PALB2 status on breast cancer precision medicine
Menée en Pologne à partir de données portant sur 12 529 patientes atteintes d'un cancer du sein et sur 4 702 témoins, cette étude prospective analyse la survie à 10 ans et le risque de décès chez les femmes porteuses d'une mutation du gène PALB2
PALB2 is a key protein in the regulation of DNA repair. Through its interaction with BRCA1 and BRCA2, it not only acts as a major effector of both interstrand cross-link and homologous recombination repair but also functions as a tumour suppressor.1 Biallelic germline mutations in PALB2 cause Fanconi's anaemia, whereas monoallelic mutations have been associated with increased breast cancer risk.2,3 In a study undertaken at genetic and breast cancer clinics, Antoniou and colleagues estimated the familial risk of breast cancer associated with a PALB2 mutation to be 35% by age 70 years.