Browsing Genetics and Epidemiology by title
Now showing items 243-262 of 508
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Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
(NATURE PORTFOLIO, 2022-02-21)Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene ... -
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
(OXFORD UNIV PRESS INC, 2019-04-01)BACKGROUND: BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains ... -
Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium.
(NATURE PUBLISHING GROUP, 2017-08-22)BACKGROUND: Evidence on height and prostate cancer risk is mixed, however, recent studies with large data sets support a possible role for its association with the risk of aggressive prostate cancer. METHODS: We analysed ... -
High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium.
(WILEY, 2016-07-01)Automated methods are needed to facilitate high-throughput and reproducible scoring of Ki67 and other markers in breast cancer tissue microarrays (TMAs) in large-scale studies. To address this need, we developed an automated ... -
Homeobox B13 G84E Mutation and Prostate Cancer Risk.
(ELSEVIER, 2019-05-01)BACKGROUND: The homeobox B13 (HOXB13) G84E mutation has been recommended for use in genetic counselling for prostate cancer (PCa), but the magnitude of PCa risk conferred by this mutation is uncertain. OBJECTIVE: To obtain ... -
How can we recruit more men of African or African-Caribbean ancestry into our research? Co-creating a video to raise awareness of prostate cancer risk and the PROFILE study.
(Springer Science and Business Media LLC, 2022-04-18)BACKGROUND: Men of African ancestry are at increased risk of developing prostate cancer (PrCa) compared to men from other backgrounds. The PROFILE study aims to understand whether genetic information can better target who ... -
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.
(2018-01)Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed ... -
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 ... -
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 ... -
Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk.
(NATURE PORTFOLIO, 2019-11-25)There is increasing evidence for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children. To identify new risk variants for B-cell ALL (B-ALL) we conducted a meta-analysis with ... -
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
(NATURE PORTFOLIO, 2016-04-27)Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast ... -
Identification of Germline Genetic Variants that Increase Prostate Cancer Risk and Influence Development of Aggressive Disease.
(MDPI, 2021-02-12)Prostate cancer (PrCa) is a heterogeneous disease, which presents in individual patients across a diverse phenotypic spectrum ranging from indolent to fatal forms. No robust biomarkers are currently available to enable ... -
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
(BMC, 2016-06-21)BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale ... -
Identification of miRSNPs associated with the risk of multiple myeloma.
(WILEY-BLACKWELL, 2017-02-01)Multiple myeloma (MM) is a malignancy of plasma cells usually infiltrating the bone marrow, associated with the production of a monoclonal immunoglobulin (M protein) which can be detected in the blood and/or urine. Multiple ... -
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 ... -
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
(NATURE PUBLISHING GROUP, 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 ... -
Identification of nine new susceptibility loci for endometrial cancer.
(NATURE PUBLISHING GROUP, 2018-08-09)Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial ... -
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) ... -
Identification of Novel Susceptibility Loci and Genes for Prostate Cancer Risk: A Transcriptome-Wide Association Study in Over 140,000 European Descendants.
(AMER ASSOC CANCER RESEARCH, 2019-07-01)Genome-wide association study-identified prostate cancer risk variants explain only a relatively small fraction of its familial relative risk, and the genes responsible for many of these identified associations remain ... -
Identification of recurrent noncoding mutations in B-cell lymphoma using capture Hi-C.
(AMER SOC HEMATOLOGY, 2019-01-08)The identification of driver mutations is fundamental to understanding oncogenesis. Although genes frequently mutated in B-cell lymphoma have been identified, the search for driver mutations has largely focused on the ...