Browsing by author "Fletcher, Olivia"
Now showing items 21-40 of 42
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Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
Horne, HN; Chung, CC; Zhang, H; Yu, K; Prokunina-Olsson, L; et al. (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 of 8q24 locus identifies multiple independent risk variants for breast cancer.
Shi, J; Zhang, Y; Zheng, W; Michailidou, K; Ghoussaini, M; et al. (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. ... -
Functional annotation of breast cancer risk loci: current progress and future directions.
Romualdo Cardoso, S; Gillespie, A; Haider, S; Fletcher, O (Springer Science and Business Media LLC, 2022-04-01)Genome-wide association studies coupled with large-scale replication and fine-scale mapping studies have identified more than 150 genomic regions that are associated with breast cancer risk. Here, we review efforts to ... -
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
Baxter, JS; Johnson, N; Tomczyk, K; Gillespie, A; Maguire, S; et al. (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 mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Lawrenson, K; Kar, S; McCue, K; Kuchenbaeker, K; Michailidou, K; et al. (NATURE PORTFOLIO, 2016-09-07)A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify ... -
Gene-environment dependence creates spurious gene-environment interaction.
Dudbridge, F; Fletcher, O (CELL PRESS, 2014-09-04)Gene-environment interactions have the potential to shed light on biological processes leading to disease and to improve the accuracy of epidemiological risk models. However, relatively few such interactions have yet been ... -
Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?
Park, J; Choi, J-Y; Choi, J; Chung, S; Song, N; et al. (MDPI, 2021-05-14)In this study we aim to examine gene-environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean ... -
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 ...