Kim Young Tae, Nam Eun Ji, Yoon Bo Sung, Kim Sang Wun, Kim Sung Hoon, Kim Jae Hoon, Kim Hyun Ki, Koo Ja Seong, Kim Jae Wook
Division of Gynecolgic Oncology, Department of Obstetrics and Gynecology, Institute of Women's Life Science, Yonsei University College of Medicine, C.P.O. Box 8044, Seoul 120-752, South Korea.
Gynecol Oncol. 2005 Dec;99(3):585-90. doi: 10.1016/j.ygyno.2005.06.058. Epub 2005 Aug 9.
Mutations in the BRCA1 and BRCA2 genes predispose women to ovarian and/or breast cancer. The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Korean women remains to be elucidated. In addition, genetic polymorphisms may affect not only cancer development but also cancer progression and, as a result, could influence cancer phenotypes. The purposes of this study were, first, to investigate the presence of BRCA1 and BRCA2 mutations in women with ovarian cancer who were unselected for family history and, second, to evaluate the relationship between ovarian cancer susceptibility gene polymorphisms and clinicopathological features.
We studied 37 women who were diagnosed with epithelial ovarian cancer and treated at the Yonsei University Hospital between August 2002 and March 2004. Genomic DNA was analyzed for BRCA mutations using a PCR-DHPLC-sequencing method. The relationship between ovarian cancer susceptibility gene polymorphisms and clinicopathological features was examined.
Most mutations of BRCA1 and BRCA2 associated with ovarian and/or breast cancer result in truncated proteins. We found one frameshift mutation in BRCA1 (3746insA) that led to premature termination. The patient had no family history of breast or ovarian cancer. There was no relationship between ovarian cancer susceptibility gene polymorphisms and clinicopathological features.
Our results were consistent with the hypothesis that BRCA1 and BRCA2 mutations have a limited role in sporadic ovarian carcinogenesis in the Korean population. Furthermore, polymorphisms of certain, selected ovarian cancer susceptibility genes were not associated with the clinicopathological phenotypes of ovarian cancer.
BRCA1和BRCA2基因的突变使女性易患卵巢癌和/或乳腺癌。BRCA1和BRCA2突变对韩国女性卵巢癌的影响仍有待阐明。此外，基因多态性不仅可能影响癌症的发生，还可能影响癌症的进展，进而可能影响癌症表型。本研究的目的，一是调查未根据家族史筛选的卵巢癌女性中BRCA1和BRCA2突变的存在情况，二是评估卵巢癌易感基因多态性与临床病理特征之间的关系。
我们研究了2002年8月至2004年3月期间在延世大学医院诊断为上皮性卵巢癌并接受治疗的37名女性。使用PCR-DHPLC测序方法分析基因组DNA中的BRCA突变。研究了卵巢癌易感基因多态性与临床病理特征之间的关系。
大多数与卵巢癌和/或乳腺癌相关的BRCA1和BRCA2突变会导致蛋白质截短。我们在BRCA1中发现了一个移码突变（3746insA），导致提前终止。该患者没有乳腺癌或卵巢癌家族史。卵巢癌易感基因多态性与临床病理特征之间没有关系。
我们的结果与以下假设一致，即BRCA1和BRCA2突变在韩国人群散发性卵巢癌发生中作用有限。此外，某些选定的卵巢癌易感基因的多态性与卵巢癌的临床病理表型无关。
