지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 107 - 113 (7page)
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초록· 키워드
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배경: 2014년 국내에서 시행했던 BRACA1/2 유전자 검사의 현황을 파악하기 위해서 진행하였다. 방법: 각 기관의 유전자 검사 담당 전문가에게 2015년 7월 28일부터 8월 10일까지 전자메일을 통해 온라인 설문조사를 시행하여, 15개의 기관 중 답변을 한 11개의 기관의 답변을 분석하였다. 결과: 2014년도에 시행된 BRACA1/2 유전자 검사건수는 11개 기관 전체 평균 192건으로, 6개의 기관은 100건 미만, 5개의 기관은 100건 이상이었다. 유전자 검사를 위해 가장 많이 사용하는 방법은 Sanger sequencing으로 전체 기관에서 사용하고 있었고, 2개의 기관에서 Multiplex Ligation-dependent Probe Ampli cation (MLPA)을 함께 사용하고 있었다. 유전자 검사 결과 분석 시 사용하는 소프트웨어는 Sequencher (81.81%), Seqscape (27.27%), Codoncode Aligner (9.09%) 순이었고 각 기관마다 유전자 검사 해석 시 따르고 있는 가이드라인이 달랐다. 결론: 2014년도에 BRACA1/2 유전자 검사를 시행한 11개 기관만을 관찰하였지만, 본 연구로 국내의 표준화된 가이드라인이 필요함을 보여주었다.
목차
등록된 정보가 없습니다.
참고문헌 (21)
참고문헌 신청
정규원 / 2017 / Cancer Statistics in Korea: Incidence, Mortality, Survival, and Prevalence in 2014 / Cancer Research and Treatment 49(2):292~305
Kang E / 2016 / KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients / J Hum Genet 61:365~371
Kang E / 2015 / The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study / Breast Cancer Res Treat 151:157~168
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~424
1000 Genomes Project Consortium / 2010 / A map of human genome variation from population-scale sequencing / Nature 467:1061~1073
Kang E / 2016 / KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients / J Hum Genet 61:365~371
Kang E / 2015 / The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study / Breast Cancer Res Treat 151:157~168
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~424
1000 Genomes Project Consortium / 2010 / A map of human genome variation from population-scale sequencing / Nature 467:1061~1073
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