Browsing Genetics and Epidemiology by title
Now showing items 453-472 of 508
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Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.
(ELSEVIER, 2014-09-01)BACKGROUND: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of ... -
Targeting aneuploidy, CIN and mechanisms of DNA content reduction in cancer
(Institute of Cancer Research (University Of London), 2021-02-28)Chromosomal instability (CIN) and aneuploidy are distinct events that can coexist in a tumour and one can result from the other. They can arise through direct errors in mitosis or in DNA damage repair and response machineries, ... -
Telemedicine During the COVID-19 Pandemic: Impact on Care for Rare Cancers.
(AMER SOC CLINICAL ONCOLOGY, 2020-06-01)PURPOSE: Many patients with cancer, often those with rare cancers such as sarcomas, travel long distances to access expert care. The COVID-19 pandemic necessitated widespread changes in delivery of cancer care, including ... -
Telomere structure and maintenance gene variants and risk of five cancer types.
(WILEY, 2016-12-15)Telomeres cap chromosome ends, protecting them from degradation, double-strand breaks, and end-to-end fusions. Telomeres are maintained by telomerase, a reverse transcriptase encoded by TERT, and an RNA template encoded ... -
The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening.
(WILEY, 2021-07-02)OBJECTIVES: To assess the feasibility and uptake of a community-based prostate cancer (PCa) screening programme selecting men according to their genetic risk of PCa. To assess the uptake of PCa screening investigations by ... -
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
(2018-05)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 ... -
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 ... -
The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor.
(MDPI, 2020-11-04)The identification of recurrent founder variants in cancer predisposing genes may have important implications for implementing cost-effective targeted genetic screening strategies. In this study, we evaluated the prevalence ... -
The clinical utility of polygenic risk scores for chronic lymphocytic leukemia.
(SPRINGERNATURE, 2021-12-01) -
The effect of sample size on polygenic hazard models for prostate cancer.
(SPRINGERNATURE, 2020-10-01)We determined the effect of sample size on performance of polygenic hazard score (PHS) models in prostate cancer. Age and genotypes were obtained for 40,861 men from the PRACTICAL consortium. The dataset included 201,590 ... -
The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.
(2018-01)The analytical sensitivity of a next generation sequencing (NGS) test reflects the ability of the test to detect real sequence variation. The evaluation of analytical sensitivity relies on the availability of gold-standard, ... -
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.
(2017-01)Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) ... -
The impact of coding germline variants on contralateral breast cancer risk and survival.
(CELL PRESS, 2023-03-02)Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The ... -
The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study.
(PUBLIC LIBRARY SCIENCE, 2019-01-03)BACKGROUND: Several obesity-related factors have been associated with renal cell carcinoma (RCC), but it is unclear which individual factors directly influence risk. We addressed this question using genetic markers as ... -
The integration of BRCA testing into oncology clinics.
(2016-06)Purpose The PARP inhibitor, Olaparib, is approved for women with BRCA-mutated ovarian cancer. Therefore there is an urgent need to test patients and obtain results in time to influence treatment. Models of BRCA testing, ... -
The Intracranial Distribution of Gliomas in Relation to Exposure From Mobile Phones: Analyses From the INTERPHONE Study.
(OXFORD UNIV PRESS INC, 2016-12-01)When investigating the association between brain tumors and use of mobile telephones, accurate data on tumor position are essential, due to the highly localized absorption of energy in the human brain from the radio-frequency ... -
The National Cancer Institute Cohort Consortium: An International Pooling Collaboration of 58 Cohorts from 20 Countries.
(AMER ASSOC CANCER RESEARCH, 2018-11-01)Cohort studies have been central to the establishment of the known causes of cancer. To dissect cancer etiology in more detail-for instance, for personalized risk prediction and prevention, assessment of risks of subtypes ... -
The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.
(NATURE PORTFOLIO, 2017-02-14)Genome-wide association studies have identified a great number of non-coding risk variants for colorectal cancer (CRC). To date, the majority of these variants have not been functionally studied. Identification of ... -
The NSD1 and EZH2 overgrowth genes, similarities and differences.
(2013-05)NSD1 and EZH2 are SET domain-containing histone methyltransferases that play key roles in the regulation of transcription through histone modification and chromatin modeling: NSD1 preferentially methylates lysine residue ... -
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.
(AMER ASSOC CANCER RESEARCH, 2017-01-01)BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an ...