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Polygenic risk-tailored screening for prostate cancer: A benefit-harm and cost-effectiveness modelling study.
(PUBLIC LIBRARY SCIENCE, 2019-12-01)
BACKGROUND: The United States Preventive Services Task Force supports individualised decision-making for prostate-specific antigen (PSA)-based screening in men aged 55-69. Knowing how the potential benefits and harms of ...
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 ...
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.
(ELSEVIER, 2019-09-18)
BACKGROUND: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 ...
A genome-wide association study identifies susceptibility loci for primary central nervous system lymphoma at 6p25.3 and 3p22.1: a LOC Network study.
(OXFORD UNIV PRESS INC, 2019-08-05)
BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a rare form of extra-nodal non-Hodgkin lymphoma. PCNSL is a distinct subtype of non-Hodgkin lymphoma, with over 95% of tumors belonging to the diffuse large ...
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
(WILEY, 2018-05-01)
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 ...
Runs of homozygosity and testicular cancer risk.
(WILEY, 2019-07-01)
BACKGROUND: Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has ...
A Review of Prostate Cancer Genome-Wide Association Studies (GWAS).
(AMER ASSOC CANCER RESEARCH, 2018-08-01)
Prostate cancer is the most common cancer in men in Europe and the United States. The genetic heritability of prostate cancer is contributed to by both rarely occurring genetic variants with higher penetrance and moderate ...
Exposure to loud noise and risk of vestibular schwannoma: results from the INTERPHONE international case‒control study.
(SCANDINAVIAN JOURNAL WORK ENVIRONMENT & HEALTH, 2018-11-05)
Objective Studies of loud noise exposure and vestibular schwannomas (VS) have shown conflicting results. The population-based INTERPHONE case‒control study was conducted in 13 countries during 2000-2004. In this paper, we ...
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.
(WILEY, 2019-02-01)
OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic ...
Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study.
(WILEY, 2019-09-15)
The constitutional t(11;22)(q23;q11) translocation is the only recurrent non-Robertsonian translocation known in humans. Carriers are phenotypically normal and are usually referred for cytogenetic testing because of multiple ...