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BRCA1/BRCA2 pathogenic variant breast cancer: Treatment and prevention strategies

Title
BRCA1/BRCA2 pathogenic variant breast cancer: Treatment and prevention strategies
Authors
Lee A.Moon B.-I.Kim T.H.
Ewha Authors
문병인
SCOPUS Author ID
문병인scopus
Issue Date
2020
Journal Title
Annals of Laboratory Medicine
ISSN
2234-3806JCR Link
Citation
Annals of Laboratory Medicine vol. 40, no. 2, pp. 114 - 121
Keywords
BRCA1/BRCA2 pathogenic variantBreast cancerOvarian cancerPreventionTreatment
Publisher
Seoul National University, Institute for Cognitive Science
Indexed
SCIE; SCOPUS; KCI WOS scopus
Document Type
Review
Abstract
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. © Korean Society for Laboratory Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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DOI
10.3343/alm.2020.40.2.114
Appears in Collections:
의과대학 > 의학과 > Journal papers
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