Scholarlink

<p>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 <i>BRCA2</i>, <i>BRCA1</i>, <i>CHEK2</i>, <i>PALB2</i>, <i>ATM</i> and <i>MAP3K1</i> were associated with a risk of breast cancer, while <i>BARD1</i> and <i>ATRIP</i> met exome-wide significance for the first time.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年10月3日

查看全文
  • Jennifer A. Collister,
  • Karl Smith-Byrne,
  • Joshua Atkins,
  • Gillian Reeves,
  • David J. Hunter

摘要

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.