在一个多中心的队列中发生的生殖系遗传突变,包括248种植物瘤瘤
Laura H Rosenberger1,2, Samantha M Thomas3,4, Tina J Hieken5
1Department of Surgery, Duke University Medical Center, DUMC 3513, Durham, NC, 27710, USA. Laura.Rosenberger@duke.edu.
Breast cancer research and treatment
|September 13, 2024
概括
大约7.7%的乳腺瘤 (PT) 妇女在与自身主导 (AD) 癌症相关的基因中具有致病性/可能致病性 (P/LP) 胚胎变异. 识别这些变异可以为PT患者的查和治疗策略提供信息.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 妇科 妇科 妇科 妇科
背景情况:
- 乳腺瘤 (PT) 是一种罕见的乳腺瘤,具有不同的恶性潜力.
- 在被诊断患有PT的女性中发生的生殖系遗传突变尚未得到充分理解.
- 以前的研究表明,PT与特定的遗传突变之间存在潜在的关联.
研究的目的:
- 确定患有PT的女性中致病性/可能致病性 (P/LP) 生殖系变异的流行率.
- 调查这些变异与临床特征和基因测试资格的关联.
主要方法:
- 一项多中心研究招募了患有PT的女性,并通过在线支持小组在全国范围内扩展.
- 参与者接受了84个基因小组测试,以检测生殖系变异.
- 后勤回归分析了变体和共变体之间的关联,包括国家综合癌症网络 (NCCN) 标准.
主要成果:
- 在248名接受测试的女性中,14.1% (35) 患有P/LP变异;19名患有自体主导 (AD) 癌症基因变异 (例如,CHEK2,ATM,RAD51D).
- 在所有患有PT的妇女中,7.7%的妇女在AD癌症基因中携带了生殖系P/LP变异.
- 根据NCCN测试资格,年龄或PT类型,没有发现P/LP变种流行率的显著差异.
结论:
- 在患有PT的女性中,很大一部分在AD癌症基因中携带生殖系P/LP变异.
- 这些变异的早期识别对患者查,风险降低和治疗有重大影响.
- 考虑对患有PT的女性进行生殖基因检测是有必要的,因为目前的国家指导方针没有解决这一问题.
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