Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences, Shiraz, Iran.
Arch Iran Med. 2009 Nov;12(6):584-7.
The germline mutations of breast cancer susceptibility genes 1 (BRCA1) and breast cancer susceptibility genes 1 (BRCA2) have been associated with a significant increase in breast cancer risk and certain other cancers. Among the most known mutations in these tumor suppressor genes are 5382insC and 185delAG in BRCA1 and 6174delT in BRCA2. The aim of the current study was to investigate the frequency of these BRCA1 and BRCA2 mutations in southern Iranian familial and sporadic cases with breast cancer.Two hundred fifty women with sporadic breast cancer, 55 women with a familial history of breast cancer in their first degree-relatives and 200 healthy women formed the studied groups. DNA from peripheral blood mononuclear cells was extracted and analyzed by a multiplex polymerase chain reaction method. The data of this investigation indicated that the aforementioned founder mutations were not detected in the groups studied. Our results indicate that 5382insC and 185delAG mutations in BRCA1 and 6174delT in BRCA2 have much less frequency in Iranian breast cancer patients.
乳腺癌易感基因 1 (BRCA1) 和乳腺癌易感基因 1 (BRCA2) 的种系突变与乳腺癌风险和某些其他癌症的显著增加有关。在这些肿瘤抑制基因中，最著名的突变是 BRCA1 中的 5382insC 和 185delAG 以及 BRCA2 中的 6174delT。本研究的目的是调查这些 BRCA1 和 BRCA2 突变在伊朗南部家族性和散发性乳腺癌病例中的频率。250 名散发性乳腺癌女性、55 名一级亲属中有乳腺癌家族史的女性和 200 名健康女性组成了研究组。从外周血单核细胞中提取 DNA，并通过多重聚合酶链反应方法进行分析。该研究的数据表明，在所研究的组中未检测到上述创始突变。我们的结果表明，伊朗乳腺癌患者中 BRCA1 的 5382insC 和 185delAG 突变以及 BRCA2 的 6174delT 突变频率要低得多。
