ArticleProceedings of the National Academy of Sciences of the United States of America2008
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 176 papers, 8 of them syntheses that pooled it.
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Who cites it
176 citing papers in PubMed, 8 syntheses or guidelines pooled it, 299 citations in OpenAlex.
- Multi-modal meta-analysis of cancer cell line omics profiles identifies ECHDC1 as a novel breast tumor suppressor.Molecular systems biology · 2021Pooled it
- Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79,000 women.Human molecular genetics · 2014Pooled it
- Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry.Human genetics · 2012Pooled it
- Pooled it
- Pooled it
- The insertion/deletion (I/D) polymorphism in the Angiotensin-converting enzyme gene and cancer risk: a meta-analysis.BMC medical genetics · 2011Pooled it
- Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.The Lancet. Oncology · 2011Pooled it
- The 6q22.33 locus and breast cancer susceptibility.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2009Pooled it
- Putative linkage signals identified for breast cancer in African American families.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Trial
- Gastrointestinal stromal tumors, somatic mutations and candidate genetic risk variants.PloS one · 2013Trial
- Trial
- Largest-Scale Genomic Resource Reconstructing the Genetic Origin, Population Structure, and Biological Adaptations of the Hui People.Molecular biology and evolution · 2025Article
- A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer.American journal of human genetics · 2024Article
- A ubiquitin-proteasome system-related signature to predict prognosis, immune infiltration, and therapy efficacy for breast cancer.Immunologic research · 2024Article
- Omics-Based Investigations of Breast Cancer.Molecules (Basel, Switzerland) · 2023Review
- A Personal Breast Cancer Risk Stratification Model Using Common Variants and Environmental Risk Factors in Japanese Females.Cancers · 2021Article
- Breast Cancer-Related Low Penetrance Genes.Advances in experimental medicine and biology · 2021Article
- Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.American journal of human genetics · 2020Article
- Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast CancerInternational journal of molecular sciences · 2020Review
- Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population.Scientific reports · 2019Article
116 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 12 institutions in 3 countries.
Funding
Abstract
We performed a three-phase genome-wide association study (GWAS) using cases and controls from a genetically isolated population, Ashkenazi Jews (AJ), to identify loci associated with breast cancer risk. In the first phase, we compared allele frequencies of 150,080 SNPs in 249 high-risk, BRCA1/2 mutation-negative AJ familial cases and 299 cancer-free AJ controls using chi(2) and the Cochran-Armitage trend tests. In the second phase, we genotyped 343 SNPs from 123 regions most significantly associated from stage 1, including 4 SNPs from the FGFR2 region, in 950 consecutive AJ breast cancer cases and 979 age-matched AJ controls. We replicated major associations in a third independent set of 243 AJ cases and 187 controls. We obtained a significant allele P value of association with AJ breast cancer in the FGFR2 region (P = 1.5 x 10(-5), odds ratio (OR) 1.26, 95% confidence interval (CI) 1.13-1.40 at rs1078806 for all phases combined). In addition, we found a risk locus in a region of chromosome 6q22.33 (P = 2.9 x 10(-8), OR 1.41, 95% CI 1.25-1.59 at rs2180341). Using several SNPs at each implicated locus, we were able to verify associations and impute haplotypes. The major haplotype at the 6q22.33 locus conferred protection from disease, whereas the minor haplotype conferred risk. Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochondrial fatty acid oxidation, and also RNF146, which encodes a ubiquitin protein ligase, both known pathways in breast cancer pathogenesis.
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