Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer

  • Yim, Seon-Hee (Molecular Pathology Clinic, Department of Hospital Pathology, Seoul St. Mary's Hospital, The Catholic University of Korea) ;
  • Lee, Keun-Ho (Department of Obstetrics and Gynecology, Seoul St. Mary's Hospital, The Catholic University of Korea) ;
  • Lee, Ah-Won (Molecular Pathology Clinic, Department of Hospital Pathology, Seoul St. Mary's Hospital, The Catholic University of Korea) ;
  • Jung, Eun-Sun (Molecular Pathology Clinic, Department of Hospital Pathology, Seoul St. Mary's Hospital, The Catholic University of Korea) ;
  • Choi, Yeong-Jin (Molecular Pathology Clinic, Department of Hospital Pathology, Seoul St. Mary's Hospital, The Catholic University of Korea)
  • Received : 2009.11.23
  • Accepted : 2009.12.18
  • Published : 2009.12.01
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Abstract

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.

BRCA1과 BRCA2 유전자 돌연변이는 상염색체 우성양상으로 유전되면서 유방암과 난소암 발생위험을 높이는 것으로 알려져 있다. BRCA1 유전자 돌연변이를 가진 사람은 70세까지 난소암이 발생할 평균 누적위험도가 39% 가량 되고, BRCA2의 경우는 11% 가량된다. 이외에도 린치 신드롬이라고도 불리는 유전성 비용종성 대장암의 경우에도 난소암의 위험도가 높아지는 것으로 알려져 있으나, 유전성 난소암의 90% 정도는 BRCA 유전자 돌연변이에 기인하는 것으로 생각된다. 본 증례는 난소암 및 다른 암의 가족력을 보이면서 난소암으로 진단된 한국 여성의 사례로 본인과 두 딸 중 한명에서 BRCA1 유전자 돌연변이가 발견된 경우로, 가족력과 유전자 검사에 근거한 유전성 난소암 고위험군의 식별과 관리의 중요성을 시사한다.

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