Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma

YoungTae Kim, Eun Ji Nam, Bo Sung Yoon, Sang Wun Kim, Sung Hoon Kim, Jae-Hoon Kim, Hyun Ki Kim, Ja Seong Koo, Jae Wook Kim

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)585-590
Number of pages6
JournalGynecologic Oncology
Volume99
Issue number3
DOIs
Publication statusPublished - 2005 Dec 1

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Germ-Line Mutation
Ovarian Neoplasms
Carcinoma
Neoplasm Genes
Mutation
Breast Neoplasms
BRCA2 Gene
BRCA1 Gene
Phenotype
Neoplasms
Frameshift Mutation
Genetic Polymorphisms
Carcinogenesis
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Oncology
  • Obstetrics and Gynaecology

Cite this

Kim, YoungTae ; Nam, Eun Ji ; Yoon, Bo Sung ; Kim, Sang Wun ; Kim, Sung Hoon ; Kim, Jae-Hoon ; Kim, Hyun Ki ; Koo, Ja Seong ; Kim, Jae Wook. / Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma. In: Gynecologic Oncology. 2005 ; Vol. 99, No. 3. pp. 585-590.
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abstract = "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.",
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Kim, Y, Nam, EJ, Yoon, BS, Kim, SW, Kim, SH, Kim, J-H, Kim, HK, Koo, JS & Kim, JW 2005, 'Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma', Gynecologic Oncology, vol. 99, no. 3, pp. 585-590. https://doi.org/10.1016/j.ygyno.2005.06.058

Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma. / Kim, YoungTae; Nam, Eun Ji; Yoon, Bo Sung; Kim, Sang Wun; Kim, Sung Hoon; Kim, Jae-Hoon; Kim, Hyun Ki; Koo, Ja Seong; Kim, Jae Wook.

In: Gynecologic Oncology, Vol. 99, No. 3, 01.12.2005, p. 585-590.

Research output: Contribution to journalArticle

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AU - Kim, YoungTae

AU - Nam, Eun Ji

AU - Yoon, Bo Sung

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AU - Kim, Sung Hoon

AU - Kim, Jae-Hoon

AU - Kim, Hyun Ki

AU - Koo, Ja Seong

AU - Kim, Jae Wook

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N2 - 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.

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