Ahsan, Habibul, Halpern, Jerry, Kibriya, Muhammad G., Pierce, Brandon L., Tong, Lin, Gamazon, Eric ORCID: 0000-0003-4204-8734, McGuire, Valerie, Felberg, Anna, Shi, Jianxin, Jasmine, Farzana, Roy, Shantanu, Brutus, Rachelle, Argos, Maria, Melkonian, Stephanie, Chang-Claude, Jenny, Andrulis, Irene, Hopper, John L., John, Esther M., Malone, Kathi, Ursin, Giske ORCID: 0000-0002-0835-9507, Gammon, Marilie D., Thomas, Duncan C., Seminara, Daniela, Casey, Graham, Knight, Julia A., Southey, Melissa C., Giles, Graham G., Santella, Regina M., Lee, Eunjung, Conti, David, Duggan, David, Gallinger, Steve, Haile, Robert, Jenkins, Mark ORCID: 0000-0002-8964-6160, Lindor, Noralane M., Newcomb, Polly, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Apicella, Carmel, Park, Daniel J., Peto, Julian, Fletcher, Olivia, Silva, Isabel dos Santos, Lathrop, Mark, Hunter, David J., Chanock, Stephen J., Meindl, Alfons, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Lochmann, Magdalena, Beckmann, Lars, Hein, Rebecca, Makalic, Enes, Schmidt, Daniel F., Stone, Jennifer ORCID: 0000-0001-5077-0124, Flesch-Janys, Dieter, Dahmen, Norbert, Nevanlinna, Heli ORCID: 0000-0002-0916-2976, Aittomaki, Kristiina, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Hall, Per, Czene, Kamila ORCID: 0000-0002-3233-5695, Irwanto, Astrid, Liu, Jianjun ORCID: 0000-0002-3255-3019, Rahman, Nazneen ORCID: 0000-0003-4376-0440, Turnbull, Clare ORCID: 0000-0002-1734-5772, Dunning, Alison M., Pharoah, Paul ORCID: 0000-0001-8494-732X, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Uitterlinden, Andre G., Rivadeneira, Fernando ORCID: 0000-0001-9435-9441, Nicolae, Dan ORCID: 0000-0002-0918-4630, Easton, Douglas F., Cox, Nancy J. and Whittemore, Alice S. (2014). 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. Cancer Epidemiol. Biomarkers Prev., 23 (4). S. 658 - 670. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7755

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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 3,470EOBC 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 x 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 x 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 x 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. (C)2014 AACR.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ahsan, HabibulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Halpern, JerryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kibriya, Muhammad G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pierce, Brandon L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tong, LinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gamazon, EricUNSPECIFIEDorcid.org/0000-0003-4204-8734UNSPECIFIED
McGuire, ValerieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Felberg, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shi, JianxinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jasmine, FarzanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roy, ShantanuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brutus, RachelleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Argos, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Melkonian, StephanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, IreneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, Esther M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Malone, KathiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ursin, GiskeUNSPECIFIEDorcid.org/0000-0002-0835-9507UNSPECIFIED
Gammon, Marilie D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomas, Duncan C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seminara, DanielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Casey, GrahamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knight, Julia A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Santella, Regina M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, EunjungUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Conti, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Duggan, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gallinger, SteveUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haile, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jenkins, MarkUNSPECIFIEDorcid.org/0000-0002-8964-6160UNSPECIFIED
Lindor, Noralane M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Newcomb, PollyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Apicella, CarmelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Park, Daniel J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peto, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fletcher, OliviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Silva, Isabel dos SantosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lathrop, MarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunter, David J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chanock, Stephen J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller-Myhsok, BertramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lochmann, MagdalenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, LarsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hein, RebeccaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Makalic, EnesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Daniel F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stone, JenniferUNSPECIFIEDorcid.org/0000-0001-5077-0124UNSPECIFIED
Flesch-Janys, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dahmen, NorbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDorcid.org/0000-0002-0916-2976UNSPECIFIED
Aittomaki, KristiinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blomqvist, CarlUNSPECIFIEDorcid.org/0000-0003-3041-1938UNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDorcid.org/0000-0002-3233-5695UNSPECIFIED
Irwanto, AstridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liu, JianjunUNSPECIFIEDorcid.org/0000-0002-3255-3019UNSPECIFIED
Rahman, NazneenUNSPECIFIEDorcid.org/0000-0003-4376-0440UNSPECIFIED
Turnbull, ClareUNSPECIFIEDorcid.org/0000-0002-1734-5772UNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pharoah, PaulUNSPECIFIEDorcid.org/0000-0001-8494-732XUNSPECIFIED
Waisfisz, QuintenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meijers-Heijboer, HanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Uitterlinden, Andre G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rivadeneira, FernandoUNSPECIFIEDorcid.org/0000-0001-9435-9441UNSPECIFIED
Nicolae, DanUNSPECIFIEDorcid.org/0000-0002-0918-4630UNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, Nancy J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Whittemore, Alice S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-442020
DOI: 10.1158/1055-9965.EPI-13-0340
Journal or Publication Title: Cancer Epidemiol. Biomarkers Prev.
Volume: 23
Number: 4
Page Range: S. 658 - 670
Date: 2014
Publisher: AMER ASSOC CANCER RESEARCH
Place of Publication: PHILADELPHIA
ISSN: 1538-7755
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SUSCEPTIBILITY LOCI; CONFER SUSCEPTIBILITY; AFRICAN-AMERICAN; FAMILY REGISTRY; OVARIAN-CANCER; RISK; FGFR2; POPULATION; VARIANTS; EPIDEMIOLOGYMultiple languages
Oncology; Public, Environmental & Occupational HealthMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/44202

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