Browsing Genetics and Epidemiology by title
Now showing items 154-173 of 519
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Exploration of the treatment challenges in men with intellectual difficulties and testicular cancer as seen in Down syndrome: single centre experience.
(BMC, 2015-06-26)Down syndrome is the most common chromosomal disorder in humans as well as the most common cause of inherited intellectual disability. A spectrum of physical and functional disability is associated with the syndrome as ... -
Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study.
(BMC, 2018-08-14)BACKGROUND: Whilst observational studies establish that lower plasma 25-hydroxyvitamin D (25-OHD) levels are associated with higher risk of colorectal cancer (CRC), establishing causality has proven challenging. Since ... -
Exploring the Complex Relationship between Gut Microbiota and Risk of Colorectal Neoplasia Using Bidirectional Mendelian Randomization Analysis.
(AMER ASSOC CANCER RESEARCH, 2023-06-01)BACKGROUND: Human gut microbiome has complex relationships with the host, contributing to metabolism, immunity, and carcinogenesis. METHODS: Summary-level data for gut microbiota and metabolites were obtained from MiBioGen, ... -
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 ... -
Familial Risks and Mortality in Second Primary Cancers in Melanoma.
(2018-10)Background: Malignant melanoma (MM) patients are at increasing risk of developing second primary cancers (SPCs). We assessed mortality and risk of SPCs in MM patients with siblings or parents affected with same cancer ... -
Familial risks of acute myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms.
(AMER SOC HEMATOLOGY, 2018-08-30) -
Family history and risk of breast cancer: an analysis accounting for family structure.
(SPRINGER, 2017-08-01)PURPOSE: Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take ... -
Family History of Prostate Cancer and Survival Outcomes in the UK Genetic Prostate Cancer Study.
(ELSEVIER, 2022-12-15)BACKGROUND: A family history (FH) of prostate cancer (PrCa) is associated with an increased likelihood of PrCa diagnosis. Conflicting evidence exists regarding familial PrCa and clinical outcomes among PrCa patients, ... -
Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome.
(SPRINGER, 2021-09-15)PTEN is a tumour suppressor gene involved in regulating cell division. Pathogenic germline variants in PTEN predispose to benign and malignant growths of numerous organs, including of the breast. In the following report, ... -
Final analysis of the phase III non-inferiority COLUMBA study of subcutaneous versus intravenous daratumumab in patients with relapsed or refractory multiple myeloma.
(FERRATA STORTI FOUNDATION, 2022-10-01)In the primary analysis of the phase III COLUMBA study, daratumumab by subcutaneous administration (DARA SC) demonstrated non-inferiority to intravenous administration (DARA IV) for relapsed or refractory multiple myeloma ... -
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
(NATURE PORTFOLIO, 2016-09-07)Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis ... -
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes.
(NATURE PORTFOLIO, 2024-04-26)Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought ... -
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
(NATURE PORTFOLIO, 2020-01-07)Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association ... -
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.
(NATURE PORTFOLIO, 2018-06-11)Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable ... -
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
(PUBLIC LIBRARY SCIENCE, 2016-08-24)The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ... -
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
(PUBLIC LIBRARY SCIENCE, 2016-07-27)Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale ... -
Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.
(WILEY, 2016-09-15)Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. ... -
First international workshop of the ATM and cancer risk group (4-5 December 2019).
(SPRINGER, 2021-06-14)The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was ... -
Five endometrial cancer risk loci identified through genome-wide association analysis.
(NATURE PORTFOLIO, 2016-06-01)We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation ... -
Focal amplification of the androgen receptor gene in hormone-naive human prostate cancer
(NATURE PUBLISHING GROUP, 2014-03-18)Background: Androgen receptor (AR)-gene amplification, found in 20-30% of castration-resistant prostate cancer (CRPCa) is proposed to develop as a consequence of hormone-deprivation therapy and be a prime cause of treatment ...