Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

KS Purrington; S Slager; D Eccles; D Yannoukakos; PA Fasching; P Miron; J Carpenter; J Chang-claude; NG Martin; GW Montgomery; V Kristensen; H Anton-Culver; P Goodfellow; WJ Tapper; S Rafiq; SM Gerty; L Durcan; I Konstantopoulou; F Fostira; A Vratimos; P Apostolou; I Konstanta; V Kotoula; S Lakis; MA Dimopoulos; D Skarlos; D Pectasides; G Fountzilas; MW Beckmann; A Hein; M Ruebner; AB Ekici; A Hartmann; R Schulz-wendtland; SP Renner; W Janni; B Rack; C Scholz; J Neugebauer; U Andergassen; MP Lux; L Haeberle; C Clarke; N Pathmanathan; A Rudolph; D Flesch-janys; S Nickels; JE Olson; JN Ingle; C Olswold; S Slettedahl; JE Eckel-passow; SK Anderson; DW Visscher; VL Cafourek; H Sicotte; N Prodduturi; E Weiderpass; L Bernstein; A Ziogas; J Ivanovich; GG Giles; L Baglietto; M Southey; VM Kosma; HP Fischer; MWR Reed; SS Cross; S Deming-halverson; M Shrubsole; Q Cai; XO Shu; M Daly; JE Weaver; E Ross; J Klemp; P Sharma; D Torres; T Rüdiger; H Wölfing; HU Ulmer; A Försti; T Khoury; S Kumar; R Pilarski; CL Shapiro; D Greco; P Heikkilä; K Aittomäki; C Blomqvist; A Irwanto; J Liu; VS Pankratz; X Wang; G Severi; A Mannermaa; D Easton; P Hall; H Brauch; A Cox

Journal article

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

KS Purrington, S Slager, D Eccles, D Yannoukakos, PA Fasching, P Miron, J Carpenter, J Chang-claude, NG Martin, GW Montgomery, V Kristensen, H Anton-Culver, P Goodfellow, WJ Tapper, S Rafiq, SM Gerty, L Durcan, I Konstantopoulou, F Fostira, A Vratimos Show all

Carcinogenesis | Published : 2014

DOI: 10.1093/carcin/bgt404

Abstract

Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage genome-wide association study of TN breast cancer (stage 1: 1529 TN cases, 3399 controls; stage 2: 2148 cases, 1309 controls) to identify loci that influence TN breast cancer risk. Variants in the 19p13.1 and PTHLH loci showed genome-wide significant associations (P < 5 × 10-8) in stage 1 and 2 combined. Results also suggested a substantial enrichment of significantly associated variants among the single nucleotide polymorphisms (SNPs) analyzed in stage 2. Variants from 25 of 74 known breast cancer susceptibility loci we..

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University of Melbourne Researchers

Melissa Southey Author

Grants

Awarded by National Institutes of Health

Funding Acknowledgements

We acknowledge the support of the Mayo Clinic Genotyping Core and Mayo Clinic Expression Core SKKDKFZS. We are grateful to all the patients for their participation. We thank the physicians, other hospital staff and research assistants who contributed to the patient recruitment, data collection and sample preparation. KBCP thank Eija Myohanen and Helena Kemilainen for technical assistance. HEBCS thank research nurses Hanna Jantti and Irja Erkkila for their help with the patient data and samples and Drs Ari Ristimaki, Tuomas Heikkinen, Mira Heinonen and Laura Hautala for their help with the tumor marker and pathology information, and gratefully acknowledges the Finnish Cancer Registry for the cancer data.