墨西哥梅斯蒂索家庭的林奇综合征:风险亲属之间的基因型,表型和级联测试中的挑战
Pamela Rivero-García1, Yanin Chavarri-Guerra2, José Luis Rodríguez Olivares2
1Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga 15, Belisario Domínguez, Sección XVI, Delegación Tlalpan, 14080, Mexico City, Mexico.
Heliyon
|July 1, 2024
概括
林奇综合征 (LS) 是一种常见的遗传性癌症倾向. 这项研究在墨西哥裔梅斯蒂索患者中确定了不匹配修复基因变异,并发现MLH1 c.676C>T的高患病率,亲属间的级联测试吸收率低.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 遗传性癌症综合征 遗传性癌症综合征
背景情况:
- 林奇综合征 (LS) 是最常见的遗传性癌症倾向,由不匹配修复 (MMR) 基因中的致病变体 (PVs) 引起.
- LS增加了结直肠,子宫内膜,卵巢,胃和其他癌症的风险.
- 关于拉丁美洲的LS表型变异,PV频谱和级联测试的数据有限.
研究的目的:
- 在墨西哥裔梅斯蒂索患者中识别MMR基因PVs.
- 描述这些患者及其亲属的临床表型和瘤谱.
- 确定基因级联测试在高危亲属中的接受率.
主要方法:
- 分析了40名LS试验者和142名LS相关瘤的亲属的临床数据和病历.
- 估计阿姆斯特丹I-II和贝塞斯达标准,以及PREMM5®分数.
- 审查免疫组织化学 (IHC) 报告和对风险亲属的血统分析.
主要成果:
- 最常见的突变是MLH1 (67.5%),其次是MSH2 (22.5%).
- 大肠直肠癌是最常见的恶性瘤,58%的病例在50岁之前出现.
- 在IHC和生殖线PV之间观察到很高的一致性 (90%). 特别频繁的是MLH1 c.676C>T变种 (1/6指数病例).
- 尽管研究人员分享了结果,但在451名有风险的亲属中,只有28.2%的亲属接受了生殖线检测.
结论:
- 生殖系遗传研究对于LS管理至关重要,使得有针对性的查和降低风险.
- MLH1 c.676C>T 变异可能是墨西哥梅斯蒂索人口中的创始突变.
- 需要改进沟通策略,以提高家庭对连锁测试的接受率.
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