乳腺癌中生殖系致病变体的流行率和临床影响:一项描述性的大型单中心研究
A Rodriguez-Hernandez1, O Martínez-Sáez2, F Brasó-Maristany3
1Department of Medical Oncology, Hospital Clinic of Barcelona, Barcelona, Spain; Translational Genomics and Targeted Therapies in Solid Tumors, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain; Facultat de Medicina i Ciències de la Salud, Universitat de Barcelona (UB), Barcelona, Spain. Electronic address: https://twitter.com/AdelaRodrguezH1.
乳腺癌 (BC) 患者的生殖系致病变体 (PVs) 对手术选择和向疗法,如多 (ADP-ribose) 聚合酶 (PARP) 抑制剂,产生影响. 基因检测优化了早期和高级BC的治疗和预防策略.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学是一种遗传学.
- 临床医学 临床医学
背景情况:
- 在5-10%的乳腺癌 (BC) 患者中发现了生殖系致病变体 (PVs).
- 这些变异影响风险和治疗决策,包括使用多 (ADP-ribose) 聚合酶 (PARP) 抑制剂 (PARPi).
- 高风险基因 (BRCA1,BRCA2,PALB2) 和中等风险基因 (CHEK2,ATM) 是关键考虑因素.
研究的目的:
- 为了评估生殖线PVs在BC患者的大队伍中的患病率.
- 评估这些变异对患者特征和治疗决策的临床影响.
- 为了确定生殖线PV和PARPi治疗的资格之间的关联.
主要方法:
- 对912名接受生殖线检测的BC患者 (2016-2023) 的回顾性分析.
- 用TruSight遗传癌症小组对14BC和林奇综合征基因进行基因测试.
- 统计分析以将生殖线结果与临床特征和PARPi资格相关联.
主要成果:
- 14.1%的患者有生殖系PV,最常见的是BRCA2和BRCA1.
- 光伏携带者更年轻,更有可能有双边或三阴性BC (TNBC),并在更高的阶段被诊断出来.
- 在早期和转移性BC.中,PVs显著影响了外科决定 (乳房切除术,salpingo-oophorectomy) 和PARPi资格.
结论:
- 生殖线PV鉴定对于优化BC的手术和全身治疗决策至关重要.
- 基因检测通过识别PARPi治疗候选人来提高患者护理.
- 通过了解生殖系变异的影响,可以改善管理和预防策略.
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