Browsing Genetics and Epidemiology by author "Fletcher, Olivia"
Now showing items 21-35 of 35
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Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
Johnson, N; Dudbridge, F; Orr, N; Gibson, L; Jones, ME; et al. (BMC, 2014-05-26)INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and ... -
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
Guo, Y; Warren Andersen, S; Shu, X-O; Michailidou, K; Bolla, MK; et al. (PUBLIC LIBRARY SCIENCE, 2016-08-23)BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is ... -
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Ferreira, MA; Gamazon, ER; Al-Ejeh, F; Aittomäki, K; Andrulis, IL; et al. (NATURE PORTFOLIO, 2019-04-15)Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue ... -
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Milne, RL; Kuchenbaecker, KB; Michailidou, K; Beesley, J; Kar, S; et al. (NATURE PORTFOLIO, 2017-12-01)Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative ... -
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Michailidou, K; Hall, P; Gonzalez-Neira, A; Ghoussaini, M; Dennis, J; et al. (NATURE PUBLISHING GROUP, 2013-04-01)Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We ... -
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2,; Hollestelle, A; van der Baan, FH; Berchuck, A; Johnatty, SE; et al. (ACADEMIC PRESS INC ELSEVIER SCIENCE, 2016-05-01)OBJECTIVE: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer ... -
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Easton, DF; Lesueur, F; Decker, B; Michailidou, K; Li, J; et al. (BMJ PUBLISHING GROUP, 2016-05-01)BACKGROUND: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, ... -
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Southey, MC; Goldgar, DE; Winqvist, R; Pylkäs, K; Couch, F; et al. (BMJ PUBLISHING GROUP, 2016-12-01)BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are ... -
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Mavaddat, N; Michailidou, K; Dennis, J; Lush, M; Fachal, L; et al. (CELL PRESS, 2019-01-03)Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen ... -
Rare germline copy number variants (CNVs) and breast cancer risk.
Dennis, J; Tyrer, JP; Walker, LC; Michailidou, K; Dorling, L; et al. (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 ... -
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Spurdle, AB; Couch, FJ; Parsons, MT; McGuffog, L; Barrowdale, D; et al. (BMC, 2014-12-23)INTRODUCTION: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus ... -
Shared heritability and functional enrichment across six solid cancers.
Jiang, X; Finucane, HK; Schumacher, FR; Schmit, SL; Tyrer, JP; et al. (NATURE PORTFOLIO, 2019-01-25)Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total ... -
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, MT; et al. (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.
Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, MT; et al. (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 ... -
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Feng, H; Gusev, A; Pasaniuc, B; Wu, L; Long, J; et al. (WILEY, 2020-07-01)Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer ...