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Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
(ELSEVIER, 2021-01-09)
BACKGROUND: Germline ATM mutations are suggested to contribute to predisposition to prostate cancer (PrCa). Previous studies have had inadequate power to estimate variant effect sizes. OBJECTIVE: To precisely estimate the ...
The PROFILE Feasibility Study: Targeted Screening of Men With a Family History of Prostate Cancer.
(WILEY, 2016-06-01)
BACKGROUND: A better assessment of individualized prostate cancer (PrCa) risk is needed to improve screening. The use of the prostate-specific antigen (PSA) level for screening in the general population has limitations and ...
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
(NATURE PUBLISHING GROUP, 2017-07-01)
Genome-wide association studies (GWAS) have transformed understanding of susceptibility to testicular germ cell tumors (TGCTs), but much of the heritability remains unexplained. Here we report a new GWAS, a meta-analysis ...
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
(SPRINGERNATURE, 2019-07-16)
BACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a ...
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.
(SPRINGERNATURE, 2016-04-12)
BACKGROUND: Germline mutations within DNA-repair genes are implicated in susceptibility to multiple forms of cancer. For prostate cancer (PrCa), rare mutations in BRCA2 and BRCA1 give rise to moderately elevated risk, ...
BRCA awareness and testing experience in the UK Jewish population: a qualitative study.
(BMJ PUBLISHING GROUP, 2024-04-04)
BACKGROUND: 1 in 40 UK Jewish individuals carry a pathogenic variant in BRCA1/BRCA2. Traditional testing criteria miss half of carriers, and so population genetic testing is being piloted for Jewish people in England. There ...
Pan-cancer analysis of whole genomes.
(NATURE PORTFOLIO, 2020-02-06)
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1-3. Here we report the integrative analysis of ...
Observational and genetic associations between cardiorespiratory fitness and cancer: a UK Biobank and international consortia study
(SPRINGERNATURE, 2024-01-31)
<jats:title>Abstract</jats:title><jats:sec>
<jats:title>Background</jats:title>
<jats:p>The association of fitness with cancer risk is not clear.</jats:p>
</jats:sec><jats:sec>
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Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
(AMER ASSOC CANCER RESEARCH, 2016-09-01)
Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-stage approach to conduct genome-wide association studies for lung, ovary, breast, prostate, ...
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
(NATURE PUBLISHING GROUP, 2013-06-01)
Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) ...