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Scientific Reports BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts 2018.10.15.Sci Rep . 2018 Oct 15;8(1):15263. 논문 보기Abstract"BRCAX" refers breast cancers occurring in women with a family history predictive of being a BRCA1/2 mutation carrier, but BRCA1/2 genetic screening has failed to find causal mutations. In this study, we report the findings of the genetic architecture of BRCAX with novel and redefined candidate loci and their potential impacts on preventive strategy. We performed a genome-wide association study involving 1,469 BRCAX cases from the Korean Hereditary Breast Cancer study, and high-risk breast cancer cases (1,482 Asians and 9,902 Europeans) from the Breast Cancer Association Consortium. We also evaluated the previously reported susceptibility loci for their roles in the high-risk breast cancers. We have identified three novel loci (PDE7B, UBL3, and a new independent marker in CDKN2B-AS1) associated with BRCAX, and replicated previously reported SNPs (24 of 92) and moderate/high-penetrance (seven of 23) genes for Korean BRCAX. For the novel candidate loci, evidence supported their roles in regulatory function. We estimated that the common low-penetrance loci might explain a substantial part of high-risk breast cancer (39.4% for Koreans and 24.0% for Europeans). Our study findings suggest that common genetic markers with lower penetrance constitute a part of susceptibility to high-risk breast cancers, with potential implications for a more comprehensive genetic screening test.
Total : 35개 (page : 2/3)
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Association analysis identifies 65 new breast cancer risk loci
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Reproductive factors as risk modifiers of breast cancer in BRCA mutation carriers and high risk
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The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier
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The Management Strategy of Benign Solitary Intraductal Papilloma on Breast Core Biopsy
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Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
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Influence of the Angelina Jolie Announcement and Insurance Reimbursement on Practice Patterns for Hereditary Breast Cancer
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Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
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Failure patterns according to molecular subtype in patients with invasive breast cancer following postoperative adjuvant radiotherapy: long-term outcomes in contemporary clinical practice
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Association between basal-like phenotype and BRCA1/2 germline mutations in Korean breast cancer patients
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Use of a prospective surveillance model to prevent breast cancer treatment-related lymphedema: a single-center experience
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Reliability of Computer-Assisted Breast Density Estimation: Comparison of Interactive Thresholding, Semiautomated, and Fully Automated Methods
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An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers
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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
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KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients
