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  • S. Karger AG  (1)
  • Medicine  (1)
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  • S. Karger AG  (1)
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  • Medicine  (1)
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    In: Oncology, S. Karger AG, Vol. 99, No. 8 ( 2021), p. 499-506
    Abstract: 〈 b 〉 〈 i 〉 Purpose: 〈 /i 〉 〈 /b 〉 The 〈 i 〉 BRCA1/2 〈 /i 〉 gene is the most well-known and studied gene associated with hereditary breast cancer. 〈 i 〉 BRCA1/2 〈 /i 〉 genetic testing is widely performed in high-risk patients of hereditary breast cancer in Korea. This study aimed to investigate the clinicopathological characteristics of 〈 i 〉 BRCA1/2 〈 /i 〉 mutation-positive breast cancer patients. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 The clinical data of 188 Korean breast cancer patients who underwent genetic testing of 〈 i 〉 BRCA1/2 〈 /i 〉 mutation between March 2015 and February 2020 at Pusan National University Yangsan Hospital were retrospectively reviewed. The characteristics of breast cancer according to the expression of 〈 i 〉 BRCA1 〈 /i 〉 and 〈 i 〉 BRCA2 〈 /i 〉 mutations were analyzed using the Health Insurance Review and Assessment Service guideline criteria and other clinicopathological factors. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The factor associated with 〈 i 〉 BRCA1/2 〈 /i 〉 gene expression was cancer stage, and mutation expression was significantly decreased in stage I compared to stage 0 ( 〈 i 〉 p 〈 /i 〉 = 0.033; odds ratio [OR], 0.169; 95% confidence interval [CI] , 0.033–0.867), and there was a tendency to increase in stage II ( 〈 i 〉 p 〈 /i 〉 = 0.780; OR, 1.150; 95% CI, 0.432–3.064). 〈 i 〉 BRCA1 〈 /i 〉 was significantly associated with triple-negative breast cancer (TNBC) ( 〈 i 〉 p 〈 /i 〉 = 0.004; OR, 5.887; 95% CI, 1.778–19.498). Gene expression of 〈 i 〉 BRCA2 〈 /i 〉 was significantly reduced under 40 years of age ( 〈 i 〉 p 〈 /i 〉 = 0.040; OR, 0.198; 95% CI, 0.042–0.930). There was no difference in disease-free survival ( 〈 i 〉 p 〈 /i 〉 = 0.900) and overall survival ( 〈 i 〉 p 〈 /i 〉 = 0.733) between the 〈 i 〉 BRCA1/2 〈 /i 〉 mutation-positive and -negative groups. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 In this study, the clinicopathological characteristics of breast cancer patients with 〈 i 〉 BRCA1/2 〈 /i 〉 gene mutations were identified. 〈 i 〉 BRCA1 〈 /i 〉 gene expression was highly correlated with TNBC. 〈 i 〉 BRCA1/2 〈 /i 〉 mutation did not have a poor prognosis regarding recurrence and death.
    Type of Medium: Online Resource
    ISSN: 0030-2414 , 1423-0232
    RVK:
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2021
    detail.hit.zdb_id: 1483096-6
    detail.hit.zdb_id: 250101-6
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