在BRCA1或BRCA2病原性变异载体中,儿童,青少年和年轻成年人患癌症的风险
Shuai Li1,2,3, Laura Madanat-Harjuoja4,5, Goska Leslie3
1Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
携带BRCA1和BRCA2致病变体的携带者在年轻成年期显著增加患乳腺癌的风险. 然而,他们并没有面临其他儿童或青少年癌症的更高风险,这表明早期基因检测的需求有限.
科学领域:
- 遗传学和瘤学 在
- 癌症流行病学 癌症流行病学
- 临床遗传学 临床遗传学
背景情况:
- 在童年,青春期和年轻成年期携带BRCA1或BRCA2致病变体的癌症风险仍然是争论的主题.
- 评估这种风险对于指导年轻人和癌症患者的临床管理和遗传测试策略至关重要.
研究的目的:
- 评估携带BRCA1或BRCA2致病变体的携带者患儿,青少年和年轻成人癌症的风险.
- 为基因检测和年轻携带者和儿科癌症患者的临床护理提供基于证据的建议.
主要方法:
- 通过使用3,086个BRCA1或BRCA2家族中的47,117个个体的数据进行了大规模的血统分析.
- 估计了30岁之前诊断的癌症的相对风险 (RRs).
主要成果:
- 这项研究确定了274种在30岁之前被诊断出癌症,其中包括139种乳腺癌和10种卵巢癌.
- 对于BRCA1 (RR=11.4) 和BRCA2 (RR=5.2) 携带者,在年轻成人 (20-29岁) 中观察到乳腺癌的风险显著增加.
- 没有发现其他儿童,青少年或年轻成人癌症的风险增加,包括非乳腺癌和非卵巢癌组合.
结论:
- 携带BRCA1和BRCA2致病变体的携带者不会增加儿童,青少年或年轻成人癌症的风险,除了20至30岁女性的乳腺癌外.
- 如果存在,与BRCA1/BRCA2变体相关的潜在儿童和青少年癌症风险可能很低 (RR < 2).
- 这些发现不支持在18岁以下的个人或儿童/青少年癌症患者中进行BRCA1/BRCA2变异的常规基因测试,除非有其他原因表明.
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