publication . Article . Other literature type . 2017

Association analysis identifies 65 new breast cancer risk loci

Kyriaki Michailidou; Sara Lindström; Joe Dennis; Jonathan Beesley; Siddhartha Kar; Audrey Lemaçon; Penny Soucy; Dylan M. Glubb; Jonathan Tyrer; Andrew Lee; ...
Open Access English
  • Published: 02 Nov 2017 Journal: Nature, volume 551, issue 7,678, pages 92-94 (issn: 0028-0836, eissn: 1476-4687, Copyright policy)
  • Publisher: Nature Research
Abstract
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10-8. The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to pred...
Subjects
free text keywords: NBCS Collaborators, ABCTB Investigators, ConFab/AOCS Investigators, Cancer genetics, Genetic association study, Journal Article, General, Article, Genetic variation, Biology, Breast cancer, medicine.disease, medicine, Medical genetics, medicine.medical_specialty, Locus (genetics), Genetic association, Cancer, Genetic predisposition, Genetics, Genome-wide association study
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
,
EC| BRIDGES
Project
BRIDGES
Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES)
  • Funder: European Commission (EC)
  • Project Code: 634935
  • Funding stream: H2020 | RIA
Validated by funder
,
EC| COGS
Project
COGS
Collaborative Oncological Gene-environment Study
  • Funder: European Commission (EC)
  • Project Code: 223175
  • Funding stream: FP7 | SP1 | HEALTH
,
CIHR
Project
  • Funder: Canadian Institutes of Health Research (CIHR)
,
EC| B-CAST
Project
B-CAST
Breast CAncer STratification: understanding the determinants of risk and prognosis of molecular subtypes
  • Funder: European Commission (EC)
  • Project Code: 633784
  • Funding stream: H2020 | RIA
Validated by funder
76 references, page 1 of 6

Amos, CI. The OncoArray Consortium: a Network for Understanding the Genetic Architecture of Common Cancers. Cancer Epidemiol Biomarkers Prev. 2016 [DOI]

Michailidou, K. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature genetics. 2013; 45: 353-361 [OpenAIRE] [PubMed] [DOI]

Long, J. Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet. 2012; 8: e1002532 [OpenAIRE] [PubMed] [DOI]

Cai, Q. Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. Nature genetics. 2014; 46: 886-890 [OpenAIRE] [PubMed] [DOI]

Long, J. A common deletion in the APOBEC3 genes and breast cancer risk. J Natl Cancer Inst. 2013; 105: 573-579 [OpenAIRE] [PubMed] [DOI]

He, C. Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. Nature genetics. 2009; 41: 724-728 [OpenAIRE] [PubMed] [DOI]

Kawase, T. PH domain-only protein PHLDA3 is a p53-regulated repressor of Akt. Cell. 2009; 136: 535-550 [OpenAIRE] [PubMed] [DOI]

Nik-Zainal, S. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016; 534: 47-54 [OpenAIRE] [PubMed] [DOI]

Comprehensive molecular portraits of human breast tumours. Nature. 2012; 490: 61-70 [OpenAIRE] [PubMed] [DOI]

Ciriello, G. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer. Cell. 2015; 163: 506-519 [OpenAIRE] [PubMed] [DOI]

Pereira, B. The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes. Nat Commun. 2016; 7: 11479 [OpenAIRE] [PubMed] [DOI]

Pers, TH. Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun. 2015; 6: 5890 [OpenAIRE] [PubMed] [DOI]

Merico, D, Isserlin, R, Stueker, O, Emili, A, Bader, GD. Enrichment map: a network-based method for gene-set enrichment visualization and interpretation. PloS one. 2010; 5: e13984 [OpenAIRE] [PubMed] [DOI]

Turner, N, Grose, R. Fibroblast growth factor signalling: from development to cancer. Nat Rev Cancer. 2010; 10: 116-129 [OpenAIRE] [PubMed] [DOI]

Heldin, CH. Targeting the PDGF signaling pathway in tumor treatment. Cell Commun Signal. 2013; 11: 97 [OpenAIRE] [PubMed] [DOI]

76 references, page 1 of 6
Abstract
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10-8. The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to pred...
Subjects
free text keywords: NBCS Collaborators, ABCTB Investigators, ConFab/AOCS Investigators, Cancer genetics, Genetic association study, Journal Article, General, Article, Genetic variation, Biology, Breast cancer, medicine.disease, medicine, Medical genetics, medicine.medical_specialty, Locus (genetics), Genetic association, Cancer, Genetic predisposition, Genetics, Genome-wide association study
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
,
EC| BRIDGES
Project
BRIDGES
Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES)
  • Funder: European Commission (EC)
  • Project Code: 634935
  • Funding stream: H2020 | RIA
Validated by funder
,
EC| COGS
Project
COGS
Collaborative Oncological Gene-environment Study
  • Funder: European Commission (EC)
  • Project Code: 223175
  • Funding stream: FP7 | SP1 | HEALTH
,
CIHR
Project
  • Funder: Canadian Institutes of Health Research (CIHR)
,
EC| B-CAST
Project
B-CAST
Breast CAncer STratification: understanding the determinants of risk and prognosis of molecular subtypes
  • Funder: European Commission (EC)
  • Project Code: 633784
  • Funding stream: H2020 | RIA
Validated by funder
76 references, page 1 of 6

Amos, CI. The OncoArray Consortium: a Network for Understanding the Genetic Architecture of Common Cancers. Cancer Epidemiol Biomarkers Prev. 2016 [DOI]

Michailidou, K. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature genetics. 2013; 45: 353-361 [OpenAIRE] [PubMed] [DOI]

Long, J. Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet. 2012; 8: e1002532 [OpenAIRE] [PubMed] [DOI]

Cai, Q. Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. Nature genetics. 2014; 46: 886-890 [OpenAIRE] [PubMed] [DOI]

Long, J. A common deletion in the APOBEC3 genes and breast cancer risk. J Natl Cancer Inst. 2013; 105: 573-579 [OpenAIRE] [PubMed] [DOI]

He, C. Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. Nature genetics. 2009; 41: 724-728 [OpenAIRE] [PubMed] [DOI]

Kawase, T. PH domain-only protein PHLDA3 is a p53-regulated repressor of Akt. Cell. 2009; 136: 535-550 [OpenAIRE] [PubMed] [DOI]

Nik-Zainal, S. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016; 534: 47-54 [OpenAIRE] [PubMed] [DOI]

Comprehensive molecular portraits of human breast tumours. Nature. 2012; 490: 61-70 [OpenAIRE] [PubMed] [DOI]

Ciriello, G. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer. Cell. 2015; 163: 506-519 [OpenAIRE] [PubMed] [DOI]

Pereira, B. The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes. Nat Commun. 2016; 7: 11479 [OpenAIRE] [PubMed] [DOI]

Pers, TH. Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun. 2015; 6: 5890 [OpenAIRE] [PubMed] [DOI]

Merico, D, Isserlin, R, Stueker, O, Emili, A, Bader, GD. Enrichment map: a network-based method for gene-set enrichment visualization and interpretation. PloS one. 2010; 5: e13984 [OpenAIRE] [PubMed] [DOI]

Turner, N, Grose, R. Fibroblast growth factor signalling: from development to cancer. Nat Rev Cancer. 2010; 10: 116-129 [OpenAIRE] [PubMed] [DOI]

Heldin, CH. Targeting the PDGF signaling pathway in tumor treatment. Cell Commun Signal. 2013; 11: 97 [OpenAIRE] [PubMed] [DOI]

76 references, page 1 of 6
Any information missing or wrong?Report an Issue