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Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
(2018-09-13)
Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous ...
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
(ELSEVIER SCIENCE INC, 2018-02-01)
BACKGROUND: Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on the prognosis of patients with breast cancer. The primary aim of this study was to determine the effect ...
Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts.
(BMJ PUBLISHING GROUP, 2018-01-10)
OBJECTIVES: To develop and validate a genetic tool to predict age of onset of aggressive prostate cancer (PCa) and to guide decisions of who to screen and at what age. DESIGN: Analysis of genotype, PCa status, and age to ...
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
(NATURE PUBLISHING GROUP, 2018-12-01)
PURPOSE: BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women ...
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
(WILEY-HINDAWI, 2018-05-01)
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of ...
Germline variants in IL4, MGMT and AKT1 are associated with prostate cancer-specific mortality: An analysis of 12,082 prostate cancer cases.
(NATURE PUBLISHING GROUP, 2018-06-01)
BACKGROUND: Prostate cancer (PCa) is a leading cause of mortality and genetic factors can influence tumour aggressiveness. Several germline variants have been associated with PCa-specific mortality (PCSM), but further ...
Large-scale transcriptome-wide association study identifies new prostate cancer risk regions.
(NATURE PORTFOLIO, 2018-10-04)
Although genome-wide association studies (GWAS) for prostate cancer (PrCa) have identified more than 100 risk regions, most of the risk genes at these regions remain largely unknown. Here we integrate the largest PrCa GWAS ...
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
(NATURE PORTFOLIO, 2018-07-01)
Genome-wide association studies (GWAS) and fine-mapping efforts to date have identified more than 100 prostate cancer (PrCa)-susceptibility loci. We meta-analyzed genotype data from a custom high-density array of 46,939 ...
Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.
(SPRINGERNATURE, 2018-07-03)
BACKGROUND: Prostate cancer (PrCa) demonstrates a heterogeneous clinical presentation ranging from largely indolent to lethal. We sought to identify a signature of rare inherited variants that distinguishes between these ...
Prostate Cancer Germline Variations and Implications for Screening and Treatment.
(COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2018-09-04)
Prostate cancer (PCa) is a highly heritable disease, and rapid evolution of sequencing technologies has enabled marked progression of our understanding of its genetic inheritance. A complex polygenic model that involves ...