Browsing Genetics and Epidemiology by title
Now showing items 238-257 of 529
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Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
(ELSEVIER SCIENCE INC, 2018-02-01)BACKGROUND: Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on the prognosis of patients with breast cancer. The primary aim of this study was to determine the effect ... -
Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
(ELSEVIER, 2019-09-01)BACKGROUND: Rare germline mutations in DNA repair genes are associated with prostate cancer (PCa) predisposition and prognosis. OBJECTIVE: To quantify the frequency of germline DNA repair gene mutations in UK PCa cases and ... -
Germline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT.
(NATURE PUBLISHING GROUP, 2020-06-01)BACKGROUND: The development of prostate cancer can be influenced by genetic and environmental factors. Numerous germline SNPs influence prostate cancer susceptibility. The functional pathways in which these SNPs increase ... -
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
(CELL PRESS, 2022-05-05)We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic ... -
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
(BMJ PUBLISHING GROUP, 2022-12-26)OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the ... -
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
(NATURE PUBLISHING GROUP, 2014-08-07)Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population ... -
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
(WILEY, 2023-02-06)The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number of individuals with either potential or confirmed germline predisposition to ... -
Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer.
(OXFORD UNIV PRESS INC, 2021-05-04)BACKGROUND: There is an urgent need to identify factors specifically associated with aggressive prostate cancer (PCa) risk. We investigated whether rare pathogenic, likely pathogenic, or deleterious (P/LP/D) germline ... -
Germline variants at SOHLH2 influence multiple myeloma risk.
(SPRINGERNATURE, 2021-04-19)Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a ... -
Germline variants in IL4, MGMT and AKT1 are associated with prostate cancer-specific mortality: An analysis of 12,082 prostate cancer cases.
(NATURE PUBLISHING GROUP, 2018-06-01)BACKGROUND: Prostate cancer (PCa) is a leading cause of mortality and genetic factors can influence tumour aggressiveness. Several germline variants have been associated with PCa-specific mortality (PCSM), but further ... -
Germline variation at 8q24 and prostate cancer risk in men of European ancestry.
(NATURE PORTFOLIO, 2018-11-05)Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ... -
Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer.
(WILEY, 2023-06-01)BACKGROUND: Therapeutic agents that specifically target patients with RAS mutant colorectal cancer (CRC) are needed. We sought potential drug targets by relating genome-wide association study and survival data in patients ... -
Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics.
(WILEY, 2020-02-01)Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have ... -
Glioma-related seizures in relation to histopathological subtypes: a report from the glioma international case-control study.
(SPRINGER HEIDELBERG, 2018-06-01)BACKGROUND: The purpose of this study was to evaluate the distribution of glioma-related seizures and seizure control at the time of tumor diagnosis with respect to tumor histologic subtypes, tumor treatment and patient ... -
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 ...