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22대 대한민국 국회 국회정보길라잡이 국회의원검색
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Purpose: Mutations in BRCA1 and BRCA2 genes are associated with increased risk of breast cancer. Variants identified in BRCA1/2 are classified as pathogenic, benign, or variants of uncertain significance (VUS). Regular reassessment of VUS is essential to ensure accurate patient risk identification.

Materials and Methods: In this study, we analyzed the reclassification of BRCA1/2 gene variants in 1,652 samples from 2020 to 2022, following the American College of Medical Genetics and Genomics guidelines. Blood samples obtained from patients were sequenced and BRCA1/2 sequences were assessed to identify VUS.

Results: A total of 93 VUS were identified, of which 30 (32.25%) were reclassified. The reclassified variants included 10 benign, 3 benign/likely benign, 6 likely benign, 1 benign/uncertain significance, 7 likely benign/uncertain significance, 1 likely pathogenic/uncertain significance, 1 likely pathogenic, and 1 pathogenic. Reanalysis using public databases, such as ClinVar plays a critical role in variant interpretation. Additionally, regular data updates and institution-specific reanalysis protocols are essential for maintaining accuracy. The high reclassification rate observed in this study can be attributed to advancements in data analysis technology.

Conclusion: Regular reanalysis of BRCA1/2 variant is critical for personalized risk assessment and treatment. Institutions should implement systems for periodic reanalysis and incorporate the latest data for improved diagnostic accuracy. Future research should focus on larger sample sizes and foster collaboration to achieve global standardization of gene variant interpretation, contributing to the development of personalized treatment strategies and overall medical advancement.

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기사명 저자명 페이지 원문 목차
Cloud computing in population-scale genomics : strategies, challenges, and future directions Seungsoo Kim, Taekeun Kim, Seungwon Lee, Hae Seo, Jeyun Kang, Dawon Kang, Ina Jeon, Jungmin Choi p. 37-46
PIK3CA-related overgrowth spectrum : from genetic mechanisms to targeted treatment with alpelisib Ye Jee Shim, Jang Hyuk Cho p. 47-55
Reclassification of BRCA1/2 gene variants of uncertain significance according to American College of Medical Genetics and Genomics guidelines Kyung Bae Lee, In Soo Rheem, Jae Kyung Kim p. 56-62
Genetic testing strategies for diagnosing hereditary cancer syndromes : from somatic testing to germline testing with illustrative BRCA cases Min-Kyung So, Boeun Yoo, Jungwon Huh p. 63-67
Exploring functional genetic variants underlying hyperthyroidism and hypothyroidism in a Korean population Gaeun Kim, Hyun-Jung Park, Eun-Jung Kim p. 68-80
Co-occurrence of Marfan syndrome and long QT syndrome in an adolescent and her family Chanki Kim, Jihye You p. 81-85
Novel NUS1 deletion and 20q13.33 duplication in a pediatric patient with neurodevelopmental disorder and ataxia : a case report Ki-Soo Kang, Kyoung Hee Han, So Young Lee, Jun Hwan Choi, Hyun Jung Lee p. 86-91

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