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Cited by 297

The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.

Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33

Open access
Gold, Bert, Kirchhoff, Tomas, Stefanov, Stefan, Lautenberger, James, Viale, Agnes, Garber, Judy, Friedman, Eitan, Narod, Steven, Olshen, Adam B., Gregersen, Peter, Kosarin, Kristi, Olsh, Adam, Bergeron, Julie, Ellis, Nathan A., Klein, Robert J., Clark, Andrew G., Norton, Larry, Dean, Michael, Boyd, Jeff, Offit, Kenneth·2008·Proceedings of the National Academy of Sciences
DOI 10.1073/pnas.0800441105
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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 χ 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 × 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 × 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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Metadata

Authors
Gold, B., Kirchhoff, T., Stefanov, S., Lautenberger, J., Viale, A., Garber, J., Friedman, E., Narod, S., Olshen, A. B., Gregersen, P., Kosarin, K., Olsh, A., Bergeron, J., Ellis, N. A., Klein, R. J., Clark, A. G., Norton, L., Dean, M., Boyd, J., & Offit, K.
Venue
Proceedings of the National Academy of Sciences
Publisher
Proceedings of the National Academy of Sciences
Published
2008-03-18
Volume
105
Issue
11
Pages
4340-4345
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
DOI
10.1073/pnas.0800441105
OpenAlex
W2027224357
Cited by
297
References
34
FWCI
24.43
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. https://app.cochat.ai/papers/10.1073/pnas.0800441105
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Gold, B., Kirchhoff, T., Stefanov, S., Lautenberger, J., Viale, A., Garber, J., Friedman, E., Narod, S., Olshen, A. B., Gregersen, P., Kosarin, K., Olsh, A., Bergeron, J., Ellis, N. A., Klein, R. J., Clark, A. G., Norton, L., Dean, M., Boyd, J., & Offit, K. (2008). Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0800441105

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.