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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
(2018-05)
Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR ...
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 ...
Breast Cancer Risk After Recent Childbirth: A Pooled Analysis of 15 Prospective Studies.
(AMER COLL PHYSICIANS, 2018-12-11)
BACKGROUND: Parity is widely recognized as protective for breast cancer, but breast cancer risk may be increased shortly after childbirth. Whether this risk varies with breastfeeding, family history of breast cancer, or ...
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.
(AMER ASSOC CANCER RESEARCH, 2018-09-15)
Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in ...
Influence of obesity-related risk factors in the aetiology of glioma.
(SPRINGERNATURE, 2018-04-01)
BACKGROUND: Obesity and related factors have been implicated as possible aetiological factors for the development of glioma in epidemiological observation studies. We used genetic markers in a Mendelian randomisation ...
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 ...
Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
(WILEY, 2018-05-01)
Epidemiological, biological, and molecular data suggest links between endometriosis and endometrial cancer, with recent epidemiological studies providing evidence for an association between a previous diagnosis of endometriosis ...
Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.
(NATURE PORTFOLIO, 2018-05-09)
Incidence of glioma is approximately 50% higher in males. Previous analyses have examined exposures related to sex hormones in women as potential protective factors for these tumors, with inconsistent results. Previous ...
Genome-wide association analysis identifies a meningioma risk locus at 11p15.5.
(OXFORD UNIV PRESS INC, 2018-10-09)
BACKGROUND: Meningiomas are adult brain tumors originating in the meningeal coverings of the brain and spinal cord, with significant heritable basis. Genome-wide association studies (GWAS) have previously identified only ...