Publications

2020

Fachal, L., Aschard,H., Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics. 2020 January

2019

Laura F et al., Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes. Nature Genetics. 2019 September

2018

Colombo M et al. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.Human Mutation. 2018 Feb 20. doi:10.1002/humu.23411.

2017

Han MR et al. Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians.Carcinogenesis. 2017 May 1;38(5):511-518 doi: 10.1093/carcin/bgx010. PMID: 28419251

2016

Wen W et al. Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry.Breast Cancer Research. 2016 Dec 8;18(1):124. doi:10.1186/s13058-016-0786-1. PMID:27931260.

Liu J et al.  rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk.  Scientific Reports.2016 Nov 15;6:36874. doi: 10.1038/srep36874. PMID:27845421.

Shi J et al. Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.  International Journal of Cancer.2016 Sep 15; 139(6):1303-1317. doi: 10.1002/ijc.30150. PMID: 27087578

Lawrenson K et al. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Nature Communications. 2016 Sep 7;7:12675. doi: 10.1038/ncomms12675. PMID: 27601076

Darabi H et al. Fine-scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). 
Scientific Reports. 2016 Sep 7;6:32512. doi: 10.1038/srep32512. PMID:27600471

Wyszynski A et al. An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression. Human Molecular Genetic. 2016 Sep 1;25(17):3863-3876. doi: 10.1093/hmg/ddw223. PMID:27402876

Zeng C et al. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 
Breast Cancer Research. 2016 Jun 21;18(1):64. doi: 10.1186/s13058-016-0718-0. PMID:27459855

Easton DF et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. Journal of Medical Genetics. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. PMID: 26921362

2015

Guo X et al. Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk. Cancer Epidemiology Biomarkers & Prevention. 2015 Nov; 24(11):1680-1691. doi: 10.1158/1055-9965.EPI-15-0363 PMID: 26354892

Orr N et al. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Human Molecular Genetics. 2015 May 15;24(10):2966-2984. doi: 10.1093/hmg/ddv035 PMID: 25652398

Michailidou K et al. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast. Nature Genetics. 2015 Apr; 47(4):373-380. doi:10.1038/ng.3242. PMID: 25751625.

Lin WY et al. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.Human Molecular Genetics. 2015 Jan 1;24(1):285-298. PMID: 25168388

2014

Milne RL et al. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.
Human Molecular Genetics. 2014 Nov 15; 23(22):6096-6111. doi:10.1093/hmg/ddu311 PMID:24943594

Ghoussaini M et al. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nature Communications. 2014 Sep 23; 4:4999. doi: 10.1038/ncomms5999. PMID: 25248036

Johnson N et al. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.Breast Cancer Research. 2014 May 26;16(3):R51. PMID: 24887515

Kang PC et al. Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.
Breast Cancer Research and Treatment. 2014 Apr; 144(3):635-42. doi:10.1007/s10549-014-2894-x

Agarwal D et al. FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.British Journal of Cancer. 2014 Feb 18;110(4):1088-100. doi: 10.1038/bjc.2013.769 PMID: 24548884

2013

Phuah SY et al. Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.PLoS One. 2013 Aug 20;8(8):e73638. doi:10.1371/journal.pone.0073638 PMID: 23977390

Zheng W et al. Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls.
Human Molecular Genetics. 2013 Jun 15;22(12):2539-50. doi:10.1093/hmg/ddt089 PMID: 23535825.

Michailidou K et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk.Nature Genetics. 2013 Apr; 45(4):353-61, 361e1-2. doi:10.1038/ng.2563 PMID: 23535729