Browsing Genetics and Epidemiology by title
Now showing items 389-408 of 515
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Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score.
(SPRINGERNATURE, 2022-02-12)BACKGROUND: Prostate cancer risk stratification using single-nucleotide polymorphisms (SNPs) demonstrates considerable promise in men of European, Asian, and African genetic ancestries, but there is still need for increased ... -
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.
(ELSEVIER, 2020-01-01)BACKGROUND: BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on retrospective studies. OBJECTIVE: To estimate relative and ... -
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
(NATURE PUBLISHING GROUP, 2018-03-20)This corrects the article DOI: 10.1038/bjc.2017.429. -
Protein-altering germline mutations implicate novel genes related to lung cancer development.
(NATURE PORTFOLIO, 2020-05-11)Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect ... -
Psychological stress, adverse life events and breast cancer incidence: a cohort investigation in 106,000 women in the United Kingdom.
(BIOMED CENTRAL LTD, 2016-07-15)BACKGROUND: Women diagnosed with breast cancer frequently attribute their cancer to psychological stress, but scientific evidence is inconclusive. We investigated whether experienced frequency of stress and adverse life ... -
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY).
(BMJ PUBLISHING GROUP, 2020-04-01)BACKGROUND: Germline TP53 gene pathogenic variants (pv) cause a very high lifetime risk of developing cancer, almost 100% for women and 75% for men. In the UK, annual MRI breast screening is recommended for female TP53 pv ... -
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 ... -
Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?
(SPRINGER, 2017-07-01)Germline TP53 mutation carriers are at high risk of developing a range of cancers. Effective cancer risk management is an important issue for these individuals. We assessed the psychosocial impact in TP53 mutation carriers ... -
Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort.
(BMC, 2016-04-04)BACKGROUND: Epidemiological studies have observed a positive association between an earlier age at sexual development and prostate cancer, but markers of sexual maturation in boys are imprecise and observational estimates ... -
Publisher Correction: Cancer genetics, precision prevention and a call to action.
(2019-01)In the version of this article originally published, there was an error in the second-to-last sentence of the abstract. In this sentence, the final phrase "to identify carriers of first-wave gene mutation carriers" should ... -
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
(ELSEVIER SCIENCE INC, 2022-01-01)PURPOSE: The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain. ... -
Quantifying the Genetic Correlation between Multiple Cancer Types.
(AMER ASSOC CANCER RESEARCH, 2017-09-01)Background: Many cancers share specific genetic risk factors, including both rare high-penetrance mutations and common SNPs identified through genome-wide association studies (GWAS). However, little is known about the ... -
RAD51B in Familial Breast Cancer.
(PUBLIC LIBRARY SCIENCE, 2016-05-05)Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study ... -
Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.
(OXFORD UNIV PRESS INC, 2020-02-01)BACKGROUND: A total of 10%-20% of patients develop long-term toxicity following radiotherapy for prostate cancer. Identification of common genetic variants associated with susceptibility to radiotoxicity might improve risk ... -
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. ... -
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
(NATURE PUBLISHING GROUP, 2016-12-20)Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases ... -
Rare germline copy number variants (CNVs) and breast cancer risk.
(NATURE PORTFOLIO, 2022-01-18)Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding ... -
Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study.
(ELSEVIER, 2022-08-01)BACKGROUND: Germline variants explain more than a third of prostate cancer (PrCa) risk, but very few associations have been identified between heritable factors and clinical progression. OBJECTIVE: To find rare germline ... -
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 ... -
Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.
(SPRINGERNATURE, 2018-07-03)BACKGROUND: Prostate cancer (PrCa) demonstrates a heterogeneous clinical presentation ranging from largely indolent to lethal. We sought to identify a signature of rare inherited variants that distinguishes between these ...