BRCA1/2 and Endometrial Cancer Risk: Implications for Management
Menée aux Pays-Bas à l'aide de données 1989-2015 du registre des cancers et d'une cohorte portant sur 5 980 personnes porteuses d'une mutation BRCA et sur 8 451 témoins non porteurs de ce type de mutation (durée médiane de suivi : 22,5 ans), cette étude analyse l'association entre la présence d'une mutation constitutionnelle BRCA et le risque de cancer de l'endomètre (58 cas)
In this issue of The Journal, de Jonge et al. provide the strongest evidence to date that BRCA1 and BRCA2 germline pathogenic variants (GPVs) are associated with increased endometrial cancer (EC) risk (1). Among 5980 women with GPVs within the Hereditary Breast and Ovarian cancer study, the Netherlands (HEBON), they report that GPVs confer increased EC risk versus the general Dutch population (BRCA1, SIR = 3.51, 95%CI = 2.61-4.72; BRCA2, SIR = 1.70, 95%CI = 1.01-2.87), and that BRCA1 GPV heterozygotes experience higher EC risk compared with HEBON participants whose relatives bear GPVs, but who themselves tested negative. EC risks were higher among BRCA1 GPV heterozygotes and for aggressive subtypes, such as those with serous histology or TP53 somatic mutations.
Journal of the National Cancer Institute , commentaire en libre accès, 2020