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Current Oncology 의학 저널 Association between basal-like phenotype and BRCA1/2 germline mutations in Korean breast cancer patients 2016.10.23.Curr Oncol. 2016 Oct; 23(5): 298–303 논문 보기MethodsIn a retrospective review of 498 breast cancer patients who had undergone BRCA testing at Seoul National University Bundang Hospital between July 2003 and September 2012, we gathered immunohistochemical information on estrogen receptor (er), progesterone receptor (pr), her2 (human epidermal growth factor receptor 2), cytokeratin 5/6, egfr (epidermal growth factor receptor), and p53 status.ResultsAmong the 411 patients eligible for the study, 50 (12.2%) had germline mutations in BRCA1 or BRCA2. Of the 93 patients with triple-negative breast cancer (tnbc), 25 with BRCA1/2 mutations were identified (BRCA1, 20.4%; BRCA2, 6.5%). On univariate analysis, er, pr, cytokeratin 5/6, egfr, and tnbc were found to be related to BRCA1 mutations, but on multivariate analysis, only tnbc was significantly associated with BRCA1 mutations. Among patients with early-onset breast cancer or with a family history of breast or ovarian cancer, BRCA1 mutations were significantly more prevalent in the tnbc group than in the non-tnbc group.ConclusionsIn the present study, tnbc was the only independent predictor of BRCA1 mutation in patients at high risk of hereditary breast and ovarian cancers. Other histologic features of basal-like breast cancer did not improve the estimate of BRCA1 mutation risk.
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Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review
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Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations
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Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival
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Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant
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BRCA and Breast Cancer-Related High-Penetrance Genes
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Contralateral Breast Cancer and Ipsilateral Breast Tumor Recurrence in BRCA1/2 Carriers and Non-Carriers at High-Risk of Hereditary Breast Cancer
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The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium
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Height and body mass index as Modifiers of breast cancer risk in BRCA1/2 mutation carriers: A Mendelian randomization study
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Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea
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Development of a Management Algorithm for the Diagnosis of Cellular Fibroepithelial Lesions From Core Needle Biopsies
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Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort
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BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts
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Impact of Nodule Size on Malignancy Risk Differs according to the Ultrasonography Pattern of Thyroid Nodules
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Neutrophil–lymphocyte ratio predicts response to chemotherapy in triple-negative breast cancer
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer












