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
- 2017.7
- 수록면
- 627 - 634 (8page)
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Purpose Unclassified variants (UVs) of BRCA1 and BRCA2 genes are not defined as pathogenic for breast cancer, and their clinical significance currently remains undefined. Therefore, this study was conducted to identify potentially pathogenic UVs by comparing their prevalence between breast cancer patients and controls.
Materials and Methods A total of 328 breast cancer patients underwent BRCA1/2 genetic screening at the National Cancer Center of Korea. Genetic variants of BRCA genes that were categorized as unclassified according to the Breast Cancer Information Core database were selected based on allelic frequency, after which candidate variants were genotyped in 421 healthy controls. We also examined family members of the study participants. Finally, the effects of amino acid substitutions on protein structure and function were predicted in silico.
Results Genetic tests revealed 33 UVs in BRCA1 and 47 in BRCA2. Among 15 candidates genotyped in healthy controls, c.5339T>C in BRCA1 and c.6029T>G, c.7522G>A in BRCA2 were not detected. Moreover, the c.5339T>C variant in the BRCA1 gene was detected in four patients with a family history of breast cancer. This nonsynonymous variant (Leu1780Pro) in the BRCA1 C-terminal domain was predicted to have an effect on BRCA1 protein structure/function.
Conclusion This study showed that comparison of genotype frequency between cases and controls could help identify UVs of BRCA genes that are potentially pathogenic. Moreover, our findings suggest that c.5339T>C in BRCA1might be a pathogenic variant for patients and their families.
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참고문헌 (22)
참고문헌 신청
정규원 / 2015 / Cancer Statistics in Korea: Incidence, Mortality, Survival, and Prevalence in 2012 / Cancer Research and Treatment 47(2):127~141
Futreal PA / 1994 / BRCA1 mutations in primary breast and ovarian carcinomas / Science 266:120~122
Miki Y / 1994 / A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 / Science 266:66~71
Wooster R / 1995 / Identification of the breast cancer susceptibility gene BRCA2 / Nature 378:789~792
Son BH / 2012 / Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea : the Korean Hereditary Breast Cancer(KOHBRA)Study / Breast Cancer Res Treat 133:1143~1152
Futreal PA / 1994 / BRCA1 mutations in primary breast and ovarian carcinomas / Science 266:120~122
Miki Y / 1994 / A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 / Science 266:66~71
Wooster R / 1995 / Identification of the breast cancer susceptibility gene BRCA2 / Nature 378:789~792
Son BH / 2012 / Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea : the Korean Hereditary Breast Cancer(KOHBRA)Study / Breast Cancer Res Treat 133:1143~1152
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