Work

Meta-analysis of exome-wide gene burden analysis of breast cancer susceptibility genes

Year: 2025

Type: review

Abstract: We provide an updated meta-analysis of rare variants identified by exome sequences and breast cancer risk in up to 74,127 cases and 748,181 controls, combining results from 12,695 cases from the Million Women Study with published summary statistics. Protein-truncating variants in established susceptibility genes BRCA2, BRCA1, CHEK2, PALB2, ATM and MAP3K1 were associated with a risk of breast cancer, while BARD1 and ATRIP met exome-wide significance for the first time.

Source: npj Breast Cancer

DOI: 10.1038/s41523-025-00826-8

Authors: Jennifer A. Collister, Karl Smith-Byrne, Joshua Atkins, Gillian Reeves, David J. Hunter

Institutions: University of Oxford, Harvard University

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,790