DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Breast cancer (early onset). The EFO term breast carcinoma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: breast carcinoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

H Ahsan, J Halpern, MG Kibriya, BL Pierce, L Tong, E Gamazon, V McGuire, A Felberg, J Shi, F Jasmine, S Roy, R Brutus, M Argos, S Melkonian, J Chang-Claude, I Andrulis, JL Hopper, EM John, K Malone, G Ursin, MD Gammon, DC Thomas, D Seminara, G Casey, JA Knight, MC Southey, GG Giles, RM Santella, E Lee, D Conti, D Duggan, S Gallinger, R Haile, M Jenkins, NM Lindor, P Newcomb, K Michailidou, C Apicella, DJ Park, J Peto, O Fletcher, I dos Santos Silva, M Lathrop, DJ Hunter, SJ Chanock, A Meindl, RK Schmutzler, B Müller-Myhsok, M Lochmann, L Beckmann, R Hein, E Makalic, DF Schmidt, QM Bui, J Stone, D Flesch-Janys, N Dahmen, H Nevanlinna, K Aittomäki, C Blomqvist, P Hall, K Czene, A Irwanto, J Liu, N Rahman, C Turnbull, AM Dunning, P Pharoah, Q Waisfisz, H Meijers-Heijboer, AG Uitterlinden, F Rivadeneira, D Nicolae, DF Easton, NJ Cox, AS Whittemore

TITLE:

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

JOURNAL:

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology Apr 2014, Vol 23, pp. 658-69

ABSTRACT:

Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 population control women ages ≤ 51 years. The SNPs with smallest P values were examined in a replication set of 3,470 EOBC cases and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P values to obtain a gene-based P value. We examined the gene with smallest P value for replication in 1,145 breast cancer cases and 1,142 control women. The combined discovery and replication sets identified 72 new SNPs associated with EOBC (P < 4 × 10(-8)) located in six genomic regions previously reported to contain SNPs associated largely with later-onset breast cancer (LOBC). SNP rs2229882 and 10 other SNPs on chromosome 5q11.2 remained associated (P < 6 × 10(-4)) after adjustment for the strongest published SNPs in the region. Thirty-two of the 82 currently known LOBC SNPs were associated with EOBC (P < 0.05). Low power is likely responsible for the remaining 50 unassociated known LOBC SNPs. The gene-based analysis identified an association between breast cancer and the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11 that met the genome-wide gene-based threshold of 2.5 × 10(-6). In conclusion, EOBC and LOBC seem to have similar genetic etiologies; the 5q11.2 region may contain multiple distinct breast cancer loci; and the PFKM gene region is worthy of further investigation. These findings should enhance our understanding of the etiology of breast cancer. PUBMED: 24493630
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