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家族史、BRCA 突变与越南女性乳腺癌。

Family history, BRCA mutations and breast cancer in Vietnamese women.

机构信息

Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada.

出版信息

Clin Genet. 2011 Jul;80(1):89-92. doi: 10.1111/j.1399-0004.2010.01545.x. Epub 2010 Oct 18.

Abstract

The purpose of this report is to estimate the proportions of familial and hereditary breast cancers among unselected cases of breast cancer in Vietnam. Two hundred and ninety-two unselected cases of incident breast cancer were recruited from the National Cancer Hospital, Hanoi, the largest cancer centre in Vietnam. Family histories were collected for 292 cases and a DNA sample was obtained for 259 cases. DNA samples were screened for mutations in the large exons of BRCA1 and BRCA2 using the protein truncation test and by allele-specific testing for 17 founder mutations which have been reported in other Asian populations. Complete gene sequencing was performed on two cases of familial breast cancer. Seven of 292 cases reported a relative with breast cancer and one patient reported a relative with ovarian cancer. A pathogenic BRCA mutation was detected in 2 of 259 cases; one BRCA1 carrier was diagnosed at age 51 and one BRCA2 carrier was diagnosed at age 42. Neither case reported a relative with breast or ovarian cancer. A family history of breast cancer is very uncommon among Vietnamese breast cancer patients. The frequency of pathogenic BRCA mutations in Vietnamese breast cancer patients is among the lowest reported worldwide.

摘要

本报告的目的是估计在越南未经选择的乳腺癌病例中家族性和遗传性乳腺癌的比例。从越南最大的癌症中心——河内国家癌症医院招募了 292 例未经选择的乳腺癌新发病例。对 292 例病例进行了家族史采集,并对 259 例病例获得了 DNA 样本。使用蛋白截断试验和已在其他亚洲人群中报道的 17 个突变体等位基因特异性检测,对 BRCA1 和 BRCA2 的大外显子中的突变进行了 DNA 样本筛选。对两例家族性乳腺癌进行了完整基因测序。292 例中有 7 例报告了有乳腺癌亲属,1 例报告了有卵巢癌亲属。在 259 例中发现了 2 例致病性 BRCA 突变;1 例 BRCA1 携带者诊断年龄为 51 岁,1 例 BRCA2 携带者诊断年龄为 42 岁。这两个病例都没有报告有乳腺癌或卵巢癌亲属。在越南乳腺癌患者中,乳腺癌家族史非常罕见。在越南乳腺癌患者中,致病性 BRCA 突变的频率是全球报道的最低之一。

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