Genome-wide association study identifies five new breast cancer susceptibility loci
Open accessAbstract
Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.
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The large-scale impact of large numbers of common variants may be a general feature of human complex traits.
“Indeed, the large-scale impact of large numbers of common variants may be a general feature of human complex traits 70–77”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [75]
Hypothesized genetic architectures consisting entirely of rare variants are inconsistent with the data for AD, ASD, BIP, and SCZ (as well as for multiple other complex biomedical diseases).
“Hypothesized genetic architectures consisting entirely of rare variants are inconsistent with the data for AD, ASD, BIP, and SCZ (as well as for multiple other complex biomedical diseases). 70–77”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [75]
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Self-citationIdentification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
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Self-citationNutrient Sensing, Signaling and Ageing: The Role of IGF-1 and mTOR in Ageing and Age-Related Disease
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Self-citation
- Authors
- The Breast Cancer Susceptibility Collaboration (UK), Turnbull, C., Ahmed, S., Morrison, J., Pernet, D., Renwick, A., Maranian, M., Seal, S., Ghoussaini, M., Hines, S., Healey, C. S., Hughes, D., Warren-Perry, M., Tapper, W., Eccles, D., Evans, D. G., Hooning, M., Schutte, M., van den Ouweland, A., Houlston, R., Ross, G., Langford, C., Pharoah, P. D. P., Stratton, M. R., Dunning, A. M., Rahman, N., & Easton, D. F.
- Affiliations
- Institute of Cancer Research (GB)
- University of Cambridge (GB)
- Southampton General Hospital (GB)
- St Mary's Hospital (GB)
- Erasmus MC (NL)
- National Health Service (GB)
- Wellcome Sanger Institute (GB)
- Corresponding author
- Easton, Douglas F
- ORCID
- Venue
- Nature Genetics
- Published
- 2010-05-09
- Volume
- 42
- Issue
- 6
- Pages
- 504-507
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3632836
- OpenAlex
- W2065658468
- Cited by
- 687
- References
- 30
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 10 · 2023: 11 · 2022: 16 · 2021: 26 · 2020: 26 · 2019: 33 · 2018: 38 · 2017: 43 · 2016: 52 · 2015: 52 · 2014: 71 · 2013: 85 · 2012: 98
- FWCI
- 53.19
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- Wellcome Trust (085475, 068545, 098051)
- Cancer Research UK (A10123, 10119, 10118, A10124, 11022, 10124, A10119, 11021)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Oncology › Cancer Risks and Factors
- Keywords
- breast cancer, genetic susceptibility, genetic susceptibility loci, single nucleotide polymorphisms, hereditary breast cancer, chromosome 9, chromosome 10, chromosome 11, 8q24, LSP1, polygenic risk, family history (medicine)
- MeSH terms
- Breast Neoplasms, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 8, Chromosomes, Human, Pair 9, Female, Genotype, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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