OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Authors: Byung Ho Son; Sei Hyun Ahn; Sung-Won Kim; Eunyoung Kang; Sue K Park; Min Hyuk Lee; Woo-Chul Noh; Lee Su Kim; Yongsik Jung; Ku Sang Kim; Dong-Young Noh; Byung-In Moon; Young Jin Suh; Jeong Eon Lee; Doo Ho Choi; Sung Yong Kim; Sung Hoo Jung; Cha Kyong Yom; Hyde Lee; Jung-Hyun Yang Journal: Breast Cancer Res Treat Date: 2012-03-02 Impact factor: 4.872
Authors: Kyung Jin Eoh; Hyung Seok Park; Ji Soo Park; Seung-Tae Lee; Jeongwoo Han; Jung-Yun Lee; Sang Wun Kim; Sunghoon Kim; Young Tae Kim; Eun Ji Nam Journal: Cancer Res Treat Date: 2016-07-27 Impact factor: 4.679
Authors: Jun Hyeong Seo; Soo Young Jeong; Myeong Seon Kim; Jun Hyeok Kang; E Sun Paik; Yoo-Young Lee; Tae-Joong Kim; Jeong-Won Lee; Byoung-Gie Kim; Duk-Soo Bae; Chel Hun Choi Journal: Obstet Gynecol Sci Date: 2019-10-11
Authors: Evgeny N Suspitsin; Nathalia Yu Sherina; Daria N Ponomariova; Anna P Sokolenko; Aglaya G Iyevleva; Tatyana V Gorodnova; Olga A Zaitseva; Olga S Yatsuk; Alexandr V Togo; Nathalia N Tkachenko; Grigory A Shiyanov; Oksana S Lobeiko; Nadezhda Yu Krylova; Dmitry E Matsko; Sergey Ya Maximov; Adel F Urmancheyeva; Nathalia V Porhanova; Evgeny N Imyanitov Journal: Hered Cancer Clin Pract Date: 2009-02-25 Impact factor: 2.857
Authors: Min Chul Choi; Jin Sik Bae; Sang Geun Jung; Hyun Park; Won Duk Joo; Seung Hun Song; Chan Lee; Ji Ho Kim; Ki Chan Lee; Sunghoon Lee; Je Ho Lee Journal: J Gynecol Oncol Date: 2018-03-26 Impact factor: 4.401