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인간 유전 학회 학회지 KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients 2016.01.14.Journal of Human Genetics volume 61, pages365–371 (2016) 논문 보기IntroductionThe widely used Western BRCA mutation prediction models underestimated the risk of having a BRCA mutation in Korean breast cancer patients. This study aimed to identify predictive factors for BRCA1/2 mutations and to develop a Korean BRCA risk calculator. The model was constructed by logistic regression model, and it was ba
sed on the Korean Hereditary Breast Cancer study, in which 1669 female patients were enrolled between May 2007 and December 2010. A separate data set of 402 patients, who were enrolled from Jan 2011 to August 2012, was used to test the performance of our model. In total, 264 (15.8%) and 67 (16.7%) BRCA mutation carriers were identified in the model and validation set, respectively. Multivariate analysis showed that age at breast cancer diagnosis, bilateral breast cancer, triple-negative breast cancer (TNBC) and the number of relatives with breast or ovarian cancer within third-degree relatives were independent predictors of the BRCA mutation among familial breast cancer patients. An age <35 years at diagnosis, bilateral breast cancer, both breast and ovarian cancer and TNBC remained significant predictors in non-familial breast cancer cases. Our model was developed ba sed on logistic regression models. The validation results showed no differences between the observed and expected carrier probabilities. This model will be a useful tool for providing genetic risk assessments in Korean populations.
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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
