Browsing Genetics and Epidemiology by title
Now showing items 156-175 of 510
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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 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 ... -
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
(OXFORD UNIV PRESS, 2022-08-25)Renal cell carcinoma (RCC) occurs in a number of cancer predisposition syndromes, but the genetic architecture of susceptibility to RCC is not well defined. We investigated the frequency of pathogenic and likely pathogenic ... -
FRMD6 has tumor suppressor functions in prostate cancer.
(SPRINGERNATURE, 2021-01-28)Available tools for prostate cancer (PC) prognosis are suboptimal but may be improved by better knowledge about genes driving tumor aggressiveness. Here, we identified FRMD6 (FERM domain-containing protein 6) as an aberrantly ... -
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
(AMER ASSOC CANCER RESEARCH, 2022-02-15)UNLABELLED: Heterozygous carriers of germline loss-of-function variants in the tumor suppressor gene checkpoint kinase 2 (CHEK2) are at an increased risk for developing breast and other cancers. While truncating variants ... -
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
(CELL PRESS, 2021-07-01)A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), ... -
Functional dissection of inherited non-coding variation influencing multiple myeloma risk.
(NATURE PORTFOLIO, 2022-01-10)Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel ...