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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Commun Biol
October 2022
Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation.
View Article and Find Full Text PDFThe predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
September 2021
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Purpose: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes.
Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS and CBC risk.
Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.
Cancer Res
February 2020
Harvard T.H. Chan School of Public Health, Boston, Massachusetts.
Pathogenic sequence variants (PSV) in or () are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 and 171 male PSV carriers with prostate cancer, and 3,388 and 2,880 male PSV carriers without prostate cancer. PSVs in the 3' region of (c.
View Article and Find Full Text PDFGenome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Nat Commun
April 2019
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function.
View Article and Find Full Text PDFDo Children with Autism Spectrum Disorder Benefit from Structural Alignment When Constructing Categories?
J Autism Dev Disord
September 2018
Department of Psychology and Kinney Center, Saint Joseph's University, Philadelphia, PA, USA.
Individuals with ASD seem to construct categories via processes different to typically developing individuals. We examined whether individuals with ASD engage in structural alignment of exemplars when constructing categories. We taught children with ASD and typically developing children novel nouns for either single or multiple exemplars, and then examined their extensions of the learned nouns to objects that were either a perceptual or conceptual match to the original exemplar(s).
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