학술논문
Hereditary Breast Cancer in Korea
이용수 28
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Sung-Won Kim
- 간행물 정보
- 『대한의학유전학회지』제9권 제1호, 1~10쪽, 전체 10쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2012.09.01
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국문 초록
영문 초록
About 7% of all breast cancer (BC) cases result from a genetic predisposition, and approximately 1,000 patients develop hereditary BC (HBC) every year in Korea. BRCA1 and BRCA2 are the primary genes underlying HBC. The average cumulative risks in BRCA1 mutation carriers at 70 years of age are 65% (95% confidence interval 44-78%) for BC and 39% (18-54%) for ovarian cancer (OC). The corresponding estimates for BRCA2 are 45% (31-56%) and 11% (2.4-19%), respectively. The penetrance of BRCA mutations is not the same between patients and can depend on factors such as race and birth-cohort. The Korean Hereditary Breast Cancer (KOHBRA) study is a large prospective nationwide study that includes 39 participating centers. Between May 2007 and May 2010, the first phase of the KOHBRA study was planned and fulfilled successfully. The primary aim of phase I was to estimate the prevalence of BRCA1/2 mutations and OC among a high-risk group of patients with HBC and their families. According to data collected during phase I of the study, the prevalence and penetrance of BRCA mutations were comparable to corresponding data from Western countries. For the second phase of the KOHBRA study, we
are currently investigating a Korean BRCA mutation prediction model, prognostic factors in BRCA-related BC, environmental/genetic modifiers, and implementing a genetic counseling network. The final goal of the KOHBRA study is to create clinical practice guidelines for HBC in Korea. In this article, I review the genetics of HBC, summarize the characteristics of Korean HBC, and discuss current and future HBC research in Korea.
목차
Introduction
Genetics in hereditary breast cancer
Acknowledgment
References
해당간행물 수록 논문
- Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations
- Hereditary Breast Cancer in Korea
- Fetal Loss Rate after Mid-trimester Amniocentesis
- Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry
- Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally
- Application of Hot Start PCR Method in PCR-based Preimplantation Genetic Diagnosis
- A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation
- A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
- A Korean Family with Cholesterol Ester Transfer Protein Deficiency
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