在德国人口中,BRCA和非乳腺/非卵巢癌类型的病原性生殖系变异之间的关联
Nicole Zilski1,2, Robert Roehle3, Stephanie Stegen1,4
1Hereditary Breast and Ovarian Cancer Center, Department of Gynecology, Campus Mitte, Charité - Universitätsmedizin Berlin, Berlin, Germany.
患有BRCA1/2致病变体的人面临胃癌和宫癌的风险增加. 这项针对德国家庭的研究强调了对BRCA携带者进行加强查和预防策略的必要性.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症研究 癌症研究
背景情况:
- 在BRCA1/2基因中的致病性生殖系变异主要与乳腺和卵巢癌的风险增加有关.
- 然而,患有这些变异的个体也可能有其他癌症类型的终身风险增加.
- 了解这些更广泛的风险对于全面的癌症管理至关重要.
研究的目的:
- 为了研究与德国家族BRCA1/2基因的病原性生殖系变异相关的癌症风险.
- 除了乳腺癌和卵巢癌之外,确定特定的癌症类型,这些癌症在BRCA1/2载体中发生率增加.
- 提供可以为制定有针对性的查和预防策略提供信息的数据.
主要方法:
- 分析了来自286个BRCA1/2阳性家族的1852个家庭成员的数据和血统信息.
- 基因测试于2015年至2017年期间在柏林Charité - Universitätsmedizin的HBOC中心进行.
- 通过将观察到的癌症发病率与德国人口中预期的发病率进行比较,计算相对癌症风险 (RR).
主要成果:
- 在BRCA1/2阳性家族中,胃癌和宫癌的风险较高.
- 与BRCA1载体 (RR 1.42) 相比,BRCA2载体的胃癌相对风险较高 (RR 1.88).
- 在BRCA2家族中,宫癌 (BRCA2 RR 2.09与BRCA1 RR 1.88) 和胰腺癌 (RR 1.56) 的风险增加也被观察到.
结论:
- 患有病原性BRCA1/2变异的德国家庭显示胃肠道癌症的风险增加,与之前的研究一致.
- 与宫癌的潜在新关联需要在更大的前性研究中进一步调查.
- 这些发现强调了针对BRCA载体的量身定制查和预防措施的重要性,特别是对于上部胃肠道恶性瘤.
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