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Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.
(NATURE PUBLISHING GROUP, 2017-02-06)
Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed ...
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
(IMPACT JOURNALS LLC, 2017-05-30)
The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome ...
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
(PUBLIC LIBRARY SCIENCE, 2016-08-24)
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ...
Family history and risk of breast cancer: an analysis accounting for family structure.
(SPRINGER, 2017-08-01)
PURPOSE: Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take ...
Risk of Second Cancer in Hodgkin Lymphoma Survivors and Influence of Family History.
(AMER SOC CLINICAL ONCOLOGY, 2017-05-10)
Purpose Although advances in Hodgkin lymphoma (HL) treatment have led to improved disease-free survival, this has been accompanied by an increased risk of second cancers. We sought to quantify the second cancer risks and ...
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
(NATURE PORTFOLIO, 2017-07-01)
Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, ...
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
(NATURE PUBLISHING GROUP, 2016-06-22)
Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. ...
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
(NATURE PORTFOLIO, 2017-05-01)
To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified ...
Five endometrial cancer risk loci identified through genome-wide association analysis.
(NATURE PORTFOLIO, 2016-06-01)
We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation ...
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.
(AMER ASSOC CANCER RESEARCH, 2016-09-01)
UNLABELLED: Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining ...