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KMID : 1189120090060020179
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대한의학유전학회지
2009 Volume.6 No. 2 p.179 ~ p.182
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One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer
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Yim Seon-Hee
Jung Eun-Sun
Lee Ah-Won
Choi Yeong-Jin
Lee Keun-Ho
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Abstract
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Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer. Among BRCA1- and BRCA2- mutation carriers, the average cumulative risks for ovarian cancer by age 70 years were 39% and 11%, respectively. There are other hereditary cancer syndromes such as Hereditary nonpolyposis colorectal cancer also confer a higher risk for developing ovarian cancer, but over 90% of all hereditary ovarian cancers are thought to be associated with BRCA1 or BRCA2 mutations. This report concerns a Korean woman diagnosed with ovarian cancer present with a family history of ovarian and various other cancers, in whom a germline BRCA1 mutation was identified and the same mutation was found in one of two daughters of her’s. Since there could be more hereditary ovarian cancer patients in Korean than clinicians thought, both primary and secondary prevention of ovarian cancer based on family history and genetic information is important to reduce cancer incidence and mortality.
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KEYWORD
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Ovarian cancer, BRCA, Hereditary breast-ovarian cancer syndrome
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