阿根廷乳腺癌女性中 BRCA1、BRCA2、PALB2 和 RAD51C 种系致病性变异体。
Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina.
机构信息
Centro Nacional de Genética, ANLIS "Dr Carlos G Malbrán", Buenos Aires, Argentina.
Women's College Research Institute, Women's College Hospital, Toronto, Canada.
出版信息
Breast Cancer Res Treat. 2019 Dec;178(3):629-636. doi: 10.1007/s10549-019-05411-9. Epub 2019 Aug 24.
PURPOSE
Each year, 17,000 new breast cancer cases are diagnosed in Argentina, and 5400 women die of breast cancer. The contribution of cancer-related mutations to the incidence of breast cancer in Argentina has not yet been explored.
METHODS
We sequenced the entire coding regions of BRCA1, BRCA2, PALB2 and RAD51C in 112 unselected Argentinian breast cancer patients.
RESULTS
A pathogenic genetic variant was found in 12 of 112 (10.7%) patients; two in BRCA1 (1.8%), five in BRCA2 (4.5%), four in PALB2 (3.6%) and one in RAD51C (0.9%). Three of four (75%) PALB2 mutation carriers carried the same variant (c.1653T > A).
CONCLUSIONS
A founder mutation in PALB2 accounts for up to 4% of breast cancer patients in Argentina. BRCA1, BRCA2, PALB2 and RAD51C should be included in the genetic testing panel of breast cancer patients in Argentina.
目的
在阿根廷，每年新诊断出 17000 例乳腺癌病例，5400 名女性死于乳腺癌。目前尚未研究与癌症相关的突变对阿根廷乳腺癌发病率的贡献。
方法
我们对 112 名未经选择的阿根廷乳腺癌患者的 BRCA1、BRCA2、PALB2 和 RAD51C 的整个编码区进行了测序。
结果
在 112 名患者中的 12 名（10.7%）发现了致病性遗传变异；两个在 BRCA1（1.8%），五个在 BRCA2（4.5%），四个在 PALB2（3.6%）和一个在 RAD51C（0.9%）。四个 PALB2 突变携带者中的三个（c.1653T > A）携带相同的变异。
结论
PALB2 中的一个热点突变导致阿根廷高达 4%的乳腺癌患者发病。BRCA1、BRCA2、PALB2 和 RAD51C 应包含在阿根廷乳腺癌患者的遗传检测面板中。
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