JCO:梅奥建议,65 岁以上女性应进行遗传性癌症基因检测

2021-07-25 MedSci原创 MedSci原创

美国NCCN指南建议,对于大于65岁的女性,如果没有特定的风险因素,乳腺癌相关基因突变较低,因此遗传性癌症检测的临床效用有限。

美国NCCN指南建议,对于大于65岁的女性,如果没有特定的风险因素,乳腺癌相关基因突变较低,因此遗传性癌症检测的临床效用有限。然而,来自梅奥诊所癌症中心的研究人员进行了一项新的研究显示, 65 岁以上被诊断患有乳腺癌的女性应该接受遗传性癌症基因检测。

CCO

在这项研究中,研究人员对 26,707 名来自基于人群的研究的 65 岁以上女性(51.5% 患有乳腺癌,48.5% 未受影响)进行生殖系易感基因的检测,并评估了其变异频率以及与乳腺癌之间的关联。

结果发现,癌症易感基因致病变异频率在乳腺癌女性中为 3.18%,在普通女性中为1.48%。在雌激素受体 (ER) 阴性乳腺癌患者中,BRCA1BRCA2PALB2中的癌症易感基因致病变异频率占 3.42%ER 阳性为 1.0%,三阴性乳腺癌为 3.01%

BRCA1BRCA2变异是从父母遗传来的,因此叫遗传性或生殖细胞系突变。BRCA基因变异是一种显性遗传,导致癌症的显性表达。该研究显示,在没有一级亲属患有乳腺癌的女性中,癌症易感基因致病变异频率较低。CHEK2PALB2BRCA2BRCA1中与乳腺癌风险增加相关。

基于人群的研究(CARRIERS)或符合NCCN指南临床测试标准,65岁以上被诊断为乳腺癌的女性的癌症易感基因致病变异频率

对于BRCA1BRCA2PALB2患者来说,终身乳腺癌风险超过15%国际上将BRCA基因变异按照风险程度由高至低分为5类:致病性(5类,致病可能性>0.99),可能致病性(4类,致病可能性在 0.95~ 0.99),意义未明(3类,致病可能性在 0.05~0.949),可能良性(2类,致病可能性在0.001~0.049)和良性(1类,致病可能性<0.001)。

因此,对于高风险人群进行BRCA基因检测和遗传咨询,可以尽早确定风险程度,进行早期干预以降低癌症风险。研究人员表示,具有高风险突变的 65 岁以上女性可能会受益于靶向治疗和改进的继发性乳腺癌风险评估。因此,所有被诊断为三阴性乳腺癌或ER阴性乳腺癌的女性都应该接受基因检测,65岁以上有BRCA1BRCA2 癌症易感基因致病变异的女性以及可能有PALB2CHEK2的癌症易感基因致病变异女性都应该考虑进行磁共振成像检查。

原始出处

Nicholas J. Boddicker et al, Risk of Late-Onset Breast Cancer in Genetically Predisposed WomenJournal of Clinical Oncology (2021). DOI: 10.1200/JCO.21.00531

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    2022-02-25 lidong40
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