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16 papers found.
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The effect of rare variants on inflation of the test statistics in case–control analyses

Background The detection of bias due to cryptic population structure is an important step in the evaluation of findings of genetic association studies. The standard method of measuring this bias in a genetic association study is to compare the observed median association test statistic to the expected median test statistic. This ratio is inflated in the presence of cryptic...

Reducing overdiagnosis by polygenic risk-stratified screening: findings from the Finnish section of the ERSPC

Background:We derived estimates of overdiagnosis by polygenic risk groups and examined whether polygenic risk-stratified screening for prostate cancer reduces overdiagnosis.Methods:We calculated the polygenic risk score based on genotypes of 66 known prostate cancer loci for 4967 men from the Finnish section of the European Randomised Study of Screening for Prostate Cancer. We...

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

Lawrenson 0 Karoline Kuchenbaecker 6 Jonathan Tyrer 6 Suhn K. Rhie 0 7 Keren Levanon 5 Alison Karst 4 Ronny Drapkin 9 Susan J. Ramus 0 The Ovarian Cancer Association Consortium The Consortium of Investigators ... -environment Study (COGS) (Jonathan Tyrer, Hoda Anton-Culver, Natalia Antonenkova, Helen Baker, Elisa V. Bandera, Yukie Bean, Matthias W. Beckmann, Andrew Berchuck, Maria Bisogna, Line Bjorge, Natalia Bogdanova

Association between Common Variation in 120 Candidate Genes and Breast Cancer Risk

Association studies in candidate genes have been widely used to search for common low penetrance susceptibility alleles, but few definite associations have been established. We have conducted association studies in breast cancer using an empirical single nucleotide polymorphism (SNP) tagging approach to capture common genetic variation in genes that are candidates for breast...

Association between Common Germline Genetic Variation in 94 Candidate Genes or Regions and Risks of Invasive Epithelial Ovarian Cancer

Background Recent studies have identified several single nucleotide polymorphisms (SNPs) in the population that are associated with variations in the risks of many different diseases including cancers such as breast, prostate and colorectal. For ovarian cancer, the known highly penetrant susceptibility genes (BRCA1 and BRCA2) are probably responsible for only 40% of the excess...

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

Background:Genome-wide association studies (GWAS) have identified 18 loci associated with serous ovarian cancer (SOC) susceptibility but the biological mechanisms driving these findings remain poorly characterised. Germline cancer risk loci may be enriched for target genes of transcription factors (TFs) critical to somatic tumorigenesis.Methods:All 615 TF-target sets from the...

Common variants in mismatch repair genes and risk of invasive ovarian cancer

Mismatch repair (MMR) is important for repairing of nucleotide mismatches during DNA replication. Germline mutations in MMR genes are associated with hereditary non-polyposis colorectal cancer (HNPCC). Ovarian cancer occurs as part of the HNPCC phenotype, and so common variants in MMR genes are candidates for ovarian cancer susceptibility. We performed a large multicentre case...

Inherited Variants in Regulatory T Cell Genes and Outcome of Ovarian Cancer

Although ovarian cancer is the most lethal of gynecologic malignancies, wide variation in outcome following conventional therapy continues to exist. The presence of tumor-infiltrating regulatory T cells (Tregs) has a role in outcome of this disease, and a growing body of data supports the existence of inherited prognostic factors. However, the role of inherited variants in genes...

FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation

Miriam S. Udler Kerstin B. Meyer Karen A. Pooley Eric Karlins Jeffery P. Struewing Jinghui Zhang David R. Doody Stewart MacArthur Jonathan Tyrer Paul D. Pharoah Robert Luben SEARCH Collaborators

Fine scale mapping of the breast cancer 16q12 locus

Miriam S. Udler Shahana Ahmed Catherine S. Healey Kerstin Meyer Jeffrey Struewing Melanie Maranian Erika M. Kwon Jinghui Zhang Jonathan Tyrer Eric Karlins Radka Platte Bolot Kalmyrzaev Ed Dicks Helen

Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor–Negative Breast Cancer Survival

Background Traditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate...

Identification of Novel Genetic Markers of Breast Cancer Survival

Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer–specific survival.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

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 13 candidate causal SNPs associated with serous OC (P=9.2 × 10−20), ER-negative BC (P=1.1 × 10−13), BRCA1-associated BC (P=7.7 × 10−16) and triple negative BC...

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking.

Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics

. Balasubramanian Simon S. Cross Malcolm W. R. Reed Fiona Blows Kristy Driver Alison Dunning Jonathan Tyrer Bruce A. J. Ponder Suleeporn Sangrajrang Paul Brennan James McKay Fabrice Odefrey Valerie Gabrieau Alice

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip circumference, and waist-to-hip-ratio (133,723 individuals) and took forward 348 SNPs into follow-up (additional 137,052...