지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 148 - 154 (7page)
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Background: Hereditary breast and ovarian cancer syndrome (HBOC) is caused by pathogenic variants in BRCA and other cancer-related genes. We analyzed variants in BRCA gene and other cancer-related genes in HBOC patients to evaluate the clinical validity of next-generation sequencing (NGS) multi-gene panel testing. Methods: The BRCA1/2 NGS testing was conducted for 262 HBOC patients. Multiplex ligation-dependent probe amplification and direct Sanger sequencing were performed for confirmation. Multi-gene panel testing was conducted for 120 patients who did not possess BRCA1/2 pathogenic variants but met the National Comprehensive Cancer Network criteria. Results: Pathogenic variants in BRCA1/2 were detected in 30 HBOC patients (11.5%). Additionally, four out of the 120 patients possessed pathogenic variants by multi-gene panel testing (3.3%): MSH2 (c.256G>T, p.Glu86*), PMS2 (c.1687C>T, p.Arg563*), CHEK2 (c.546C>A, p.Tyr182*), and PALB2 (c.3351-1G>C). All the four patients had a family history of cancer. Conclusions: Multi-gene panel testing could be a significant screening tool for HBOC patients, especially for those with a family history of cancer.
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참고문헌 (29)
참고문헌 신청
Smith EC / 2012 / An overview of hereditary breast and ovarian cancer syndrome / J Midwifery Womens Health 57:577~584
Collaborative Group on Hormonal Factors in Breast Cancer / 2001 / Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease / Lancet 358:1389~1399
Crawford B / 2017 / Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients / Breast Cancer Res Treat 163:383~390
Couch FJ / 2014 / Two decades after BRCA : setting paradigms in personalized cancer care and prevention / Science 343:1466~1470
Economopoulou P / 2015 / Beyond BRCA: new hereditary breast cancer susceptibility genes / Cancer Treat Rev 41:1~8
Collaborative Group on Hormonal Factors in Breast Cancer / 2001 / Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease / Lancet 358:1389~1399
Crawford B / 2017 / Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients / Breast Cancer Res Treat 163:383~390
Couch FJ / 2014 / Two decades after BRCA : setting paradigms in personalized cancer care and prevention / Science 343:1466~1470
Economopoulou P / 2015 / Beyond BRCA: new hereditary breast cancer susceptibility genes / Cancer Treat Rev 41:1~8
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