Publications

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nat Genet 2017 Dec 23;49(12):1767-1778. Epub 2017 Oct 23.
Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

Association analysis identifies 65 new breast cancer risk loci.
Nature 2017 Nov 23;551(7678):92-94. Epub 2017 Oct 23.
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.


BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Cancer Res 2017 Jun 10;77(11):2789-2799. Epub 2017 Mar 10.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.



rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.
Sci Rep 2016 Nov 15;6:36874. Epub 2016 Nov 15.
Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
Am J Hum Genet 2016 Oct 15;99(4):903-911. Epub 2016 Sep 15.
Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia. Electronic address:

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.
Int J Cancer 2016 Sep 17;139(6):1303-1317. Epub 2016 Jun 17.
Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.
Hum Mol Genet 2016 Sep 11;25(17):3863-3876. Epub 2016 Jul 11.
Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
Sci Rep 2016 Sep 7;6:32512. Epub 2016 Sep 7.
Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Nat Commun 2016 Sep 7;7:12675. Epub 2016 Sep 7.
Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California 90033, USA.

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Breast Cancer Res 2016 Jun 21;18(1):64. Epub 2016 Jun 21.
Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
J Med Genet 2016 May 26;53(5):298-309. Epub 2016 Feb 26.
Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nat Genet 2016 Apr 29;48(4):374-86. Epub 2016 Feb 29.
Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.


Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk.
Cancer Epidemiol Biomarkers Prev 2015 Nov 9;24(11):1680-91. Epub 2015 Sep 9.
Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
Am J Hum Genet 2015 Jul 11;97(1):22-34. Epub 2015 Jun 11.
Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia. Electronic address:

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.
Hum Mol Genet 2015 May 4;24(10):2966-84. Epub 2015 Feb 4.
Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
Nat Genet 2015 Apr 9;47(4):373-80. Epub 2015 Mar 9.
1] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [2] Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.


Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Hum Mol Genet 2015 Jan 28;24(1):285-98. Epub 2014 Aug 28.
Department of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.
Am J Hum Genet 2015 Jan 18;96(1):5-20. Epub 2014 Dec 18.
Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD 4072, Australia. Electronic address:

Natural variations of copper and sulfur stable isotopes in blood of hepatocellular carcinoma patients.
Proc Natl Acad Sci U S A 2015 Jan 12;112(4):982-5. Epub 2015 Jan 12.
Unité 823, Ontogenèse et Oncogenèse Moléculaire, Institut Albert Bonniot, INSERM, Université Joseph Fourier, 38706 Grenoble, France; and Strathclyde Institute of Global Public Health, International Prevention Research Institute, 69006 Lyon, France.

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.
Hum Mol Genet 2014 Nov 18;23(22):6096-111. Epub 2014 Jun 18.
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
Nat Commun 2014 Sep 23;4:4999. Epub 2014 Sep 23.
Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.

Analysis of new biomarkers for cholangiocarcinoma.
J Hepatobiliary Pancreat Sci 2014 Jun 21;21(6):397-8. Epub 2014 Jan 21.
Nagahama Institute of Bio-Science and Technology, 1266 Tamura-cho, Nagahama, Shiga, 526-0829, Japan.

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
Breast Cancer Res 2014 May 26;16(3):R51. Epub 2014 May 26.
Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK.

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.
Am J Hum Genet 2013 Dec 27;93(6):1046-60. Epub 2013 Nov 27.
CRUK Cambridge Institute and Department of Oncology, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK. Electronic address:


Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Nat Genet 2013 Apr;45(4):353-61, 361e1-2
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Nat Genet 2013 Apr;45(4):371-84, 384e1-2
Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.

Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
Nat Genet 2013 Apr;45(4):392-8, 398e1-2
1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK. [2] Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK. [3].

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.
Am J Hum Genet 2013 Apr 27;92(4):489-503. Epub 2013 Mar 27.
School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Queensland 4072, Australia.



Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.
Hum Mol Genet 2011 Dec 18;20(23):4693-706. Epub 2011 Aug 18.
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer.
Cancer Epidemiol Biomarkers Prev 2011 Oct 27;20(10):2222-31. Epub 2011 Jul 27.
Genetic & Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
Hum Mol Genet 2011 Aug 19;20(16):3289-303. Epub 2011 May 19.
Department of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam, the Netherlands.

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.
J Natl Cancer Inst 2011 Feb 29;103(3):250-63. Epub 2010 Dec 29.
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Sciences, Rockville, MD 20852, USA.



Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics.
PLoS Genet 2008 Apr 25;4(4):e1000054. Epub 2008 Apr 25.
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Marylan, United States of America.

DNA adduct formation among workers in a Thai industrial estate and nearby residents.
Sci Total Environ 2008 Jan 1;389(2-3):283-8. Epub 2007 Nov 1.
Cancer Risk Factor Branch, Analytical and Biomolecular Cytology Unit, CSPO - Istituto Scientifico della Regione Toscana, Via Cosimo il Vecchio 2, 50139 Florence, Italy.

Genome-wide association study identifies novel breast cancer susceptibility loci.
Nature 2007 Jun;447(7148):1087-93
CR-UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

A common coding variant in CASP8 is associated with breast cancer risk.
Nat Genet 2007 Mar 11;39(3):352-8. Epub 2007 Feb 11.
Sheffield University Medical School, Sheffield S10 2RX, UK.

Evaluation of non-viral risk factors for nasopharyngeal carcinoma in Thailand: results from a case-control study.
Asian Pac J Cancer Prev 2010 ;11(4):929-32
Occupational and Environmental Medicine Center, Nopparat Rajthanee Hospital, and Department of Preventive and Social Medicine, Faculty of Medicine, Srinakharinwirot University, Bangkok, Thailand.



Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC).
PLoS One 2012 7;7(8):e42380. Epub 2012 Aug 7.
Unit of Genetic Epidemiology, Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany.

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
PLoS One 2016 24;11(8):e0160316. Epub 2016 Aug 24.
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.


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