SynthesisCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2012
Fine-mapping CASP8 risk variants in breast cancer.
Synthesis in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- The feasibility of web surveys for obtaining patient-reported outcomes from cancer survivors: a randomized experiment comparing survey modes and brochure enclosures.BMC medical research methodology · 2019Trial
- Addressing the mean-variance relationship in spatially resolved transcriptomics data withbioRxiv : the preprint server for biology · 2024Article
- Genetic contribution of caspase-8 variants and haplotypes to breast cancer risk and prognosis: a case-control study in Iran.BMC medical genomics · 2023Article
- Promotion of tumorigenesis by miR-1260b-targeting CASP8: Potential diagnostic and prognostic marker for breast cancer.Cancer science · 2022Article
- Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.Journal of personalized medicine · 2021Article
- A Cell's Fate: An Overview of the Molecular Biology and Genetics of Apoptosis.International journal of molecular sciences · 2019Review
- Predictors of Response Outcomes for Research Recruitment Through a Central Cancer Registry: Evidence From 17 Recruitment Efforts for Population-Based Studies.American journal of epidemiology · 2019Article
- Article
- Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus.Cancer research · 2016Article
- Novel polymorphisms in caspase-8 are associated with breast cancer risk in the California Teachers Study.BMC cancer · 2016Article
- Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.Human molecular genetics · 2015Article
- Computational cell fate modelling for discovery of rewiring in apoptotic network for enhanced cancer drug sensitivity.BMC systems biology · 2015Article
- Caspase8 rs1035142 G>T polymorphism was associated with an increased risk of esophageal cancer in a Chinese population.Molecular biology reports · 2014Article
- Comparing the efficacy of SNP filtering methods for identifying a single causal SNP in a known association region.Annals of human genetics · 2014Article
- Hereditary breast cancer: ever more pieces to the polygenic puzzle.Hereditary cancer in clinical practice · 2013Article
- Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.PLoS genetics · 2013Article
- Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundMultiple genome-wide and candidate gene association studies have been conducted in search of common risk variants for breast cancer. Recent large meta analyses, consolidating evidence from these studies, have been consistent in highlighting the caspase-8 (CASP8) gene as important in this regard. To define a risk haplotype and map the CASP8 gene region with respect to underlying susceptibility variant/s, we screened four genes in the CASP8 region on 2q33-q34 for breast cancer risk.
methodsTwo independent data sets from the United Kingdom and the United States, including 3,888 breast cancer cases and controls, were genotyped for 45 tagging single nucleotide polymorphisms (tSNP) in the expanded CASP8 region. SNP and haplotype association tests were carried out using Monte Carlo-based methods.
resultsWe identified a three-SNP haplotype across rs3834129, rs6723097, and rs3817578 that was significantly associated with breast cancer (P < 5 × 10(-6)), with a dominant risk ratio and 95% CI of 1.28 (1.21-1.35) and frequency of 0.29 in controls. Evidence for this risk haplotype was extremely consistent across the two study sites and also consistent with previous data.
conclusionThis three-SNP risk haplotype represents the best characterization so far of the chromosome upon which the susceptibility variant resides. IMPACT: Characterization of the risk haplotype provides a strong foundation for resequencing efforts to identify the underlying risk variant, which may prove useful for individual-level risk prediction, and provide novel insights into breast carcinogenesis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.