Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

ABSTRACT:

Importance

The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population.

Objective

To compare the cancer spectrum and frequencies between male BRCA1 and BRCA2 PV carriers.

Design, setting, and participants

Retrospective cohort study of 6902 men, including 3651 BRCA1 and 3251 BRCA2 PV carriers, older than 18 years recruited from cancer genetics clinics from 1966 to 2017 by 53 study groups in 33 countries worldwide collaborating through the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Clinical data and pathologic characteristics were collected.

Main outcomes and measures

BRCA1/2 st

SUBMITTER: Silvestri V 

PROVIDER: S-EPMC7333177 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature