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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
- 114 - 121 (8page)
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초록· 키워드
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Hereditary breast cancer is known for its strong tendency of inheritance. Most hereditary breast cancers are related to BRCA1/BRCA2 pathogenic variants. The lifelong risk of breast cancer in pathogenic BRCA1 and BRCA2 variant carriers is approximately 65% and 45%, respectively, whereas that of ovarian cancer is estimated to be 39% and 11%, respectively. Therefore, understanding these variants and clinical knowledge on their occurrence in breast cancers and carriers are important. BRCA1 pathogenic variant breast cancer shows more aggressive clinicopathological features than the BRCA2 pathogenic variant breast cancer. Compared with sporadic breast cancer, their prognosis is still debated. Treatments of BRCA1/BRCA2 pathogenic variant breast cancer are similar to those for BRCA-negative breast cancer, mainly including surgery, radiotherapy, and chemotherapy. Recently, various clinical trials have investigated poly (adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitor treatment for advanced-stage BRCA1/BRCA2 pathogenic variant breast cancer. Among the various PARP inhibitors, olaparib and talazoparib, which reached phase III clinical trials, showed improvement of median progression-free survival around three months. Preventive and surveillance strategies for BRCA pathogenic variant breast cancer to reduce cancer recurrence and improve treatment outcomes have recently received increasing attention. In this review, we provide an information on the clinical features of BRCA1/BRCA2 pathogenic variant breast cancer and clinical recommendations for BRCA pathogenic variant carriers, with a focus on treatment and prevention strategies. With this knowledge, clinicians could manage the BRCA1/BRCA2 pathogenic variant breast cancer patients more effectively.
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참고문헌 (97)
참고문헌 신청
Mahdavi M / 2019 / Hereditary breast cancer; genetic penetrance and current status with BRCA / J Cell Physiol 234:5741~5750
Ford D / 1998 / Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium / Am J Hum Genet 62:676~689
Antoniou A / 2003 / Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies / Am J Hum Genet 72:1117~1130
Thompson D / 2002 / Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers / J Natl Cancer Inst 94:1358~1365
Veronesi A / 2005 / Familial breast cancer : characteristics and outcome of BRCA 1-2 positive and negative cases / BMC Cancer 5:70
Ford D / 1998 / Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium / Am J Hum Genet 62:676~689
Antoniou A / 2003 / Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies / Am J Hum Genet 72:1117~1130
Thompson D / 2002 / Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers / J Natl Cancer Inst 94:1358~1365
Veronesi A / 2005 / Familial breast cancer : characteristics and outcome of BRCA 1-2 positive and negative cases / BMC Cancer 5:70
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