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

IF 7.6 2区医学 Q1 ONCOLOGY

NPJ Breast Cancer Pub Date : 2025-10-03 DOI:10.1038/s41523-025-00826-8

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

引用次数: 0

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.

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乳腺癌易感基因全外显子组基因负担分析的meta分析。

我们提供了一项最新的荟萃分析，通过外显子组序列识别的罕见变异与乳腺癌风险，在多达74,127例病例和748,181例对照中，将来自百万妇女研究的12,695例病例的结果与已发表的汇总统计数据相结合。已知易感基因BRCA2、BRCA1、CHEK2、PALB2、ATM和MAP3K1的蛋白截断变异与乳腺癌风险相关，而BARD1和ATRIP首次达到外显子组范围的显著性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

NPJ Breast Cancer Medicine-Pharmacology (medical)

CiteScore

10.10

自引率

1.70%

发文量

122

审稿时长

9 weeks

期刊介绍： npj Breast Cancer publishes original research articles, reviews, brief correspondence, meeting reports, editorial summaries and hypothesis generating observations which could be unexplained or preliminary findings from experiments, novel ideas, or the framing of new questions that need to be solved. Featured topics of the journal include imaging, immunotherapy, molecular classification of disease, mechanism-based therapies largely targeting signal transduction pathways, carcinogenesis including hereditary susceptibility and molecular epidemiology, survivorship issues including long-term toxicities of treatment and secondary neoplasm occurrence, the biophysics of cancer, mechanisms of metastasis and their perturbation, and studies of the tumor microenvironment.