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. Ahsan, H., Halpern, J., Kibriya, M. G., Pierce, B. L., Tong, L., Gamazon, E., McGuire, V., Felberg, A., Shi, J., Jasmine, F., Roy, S., Brutus, R., Argos, M., Melkonian, S., Chang-Claude, J., Andrulis, I., Hopper, J. L., John, E. M., Malone, K., Ursin, G., Gammon, M. D., Thomas, D. C., Seminara, D., Casey, G., Knight, J. A., Southey, M. C., Giles, G. G., Santella, R. M., Lee, E., Conti, D., Duggan, D., Gallinger, S., Haile, R., Jenkins, M., Lindor, N. M., Newcomb, P., Michailidou, K., Apicella, C., Park, D. J., Peto, J., Fletcher, O., dos Santos Silva, I., Lathrop, M., Hunter, D. J., Chanock, S. J., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lochmann, M., Beckmann, L., Hein, R., Makalic, E., Schmidt, D. F., Bui, Q. M., Stone, J., Flesch-Janys, D., Dahmen, N., Nevanlinna, H., Aittomäki, K., Blomqvist, C., Hall, P., Czene, K., Irwanto, A., Liu, J., Rahman, N., Turnbull, C., Familial Breast Cancer Study, Dunning, A. M., Pharoah, P., Waisfisz, Q., Meijers-Heijboer, H., Uitterlinden, A. G., Rivadeneira, F., Nicolae, D., Easton, D. F., Cox, N. J., & Whittemore, A. S. Cancer Epidemiology, Biomarkers & Prevention: A Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 23(4):658–669, April, 2014.
doi  abstract   bibtex   
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 \textless 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 \textless 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 \textless 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.
@article{ahsan_genome-wide_2014,
	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},
	volume = {23},
	issn = {1538-7755},
	doi = {10.1158/1055-9965.EPI-13-0340},
	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 {\textless} 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 {\textless} 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 {\textless} 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.},
	language = {eng},
	number = {4},
	journal = {Cancer Epidemiology, Biomarkers \& Prevention: A Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology},
	author = {Ahsan, Habibul and Halpern, Jerry and Kibriya, Muhammad G. and Pierce, Brandon L. and Tong, Lin and Gamazon, Eric and McGuire, Valerie and Felberg, Anna and Shi, Jianxin and Jasmine, Farzana and Roy, Shantanu and Brutus, Rachelle and Argos, Maria and Melkonian, Stephanie and Chang-Claude, Jenny and Andrulis, Irene and Hopper, John L. and John, Esther M. and Malone, Kathi and Ursin, Giske and Gammon, Marilie D. and Thomas, Duncan C. and Seminara, Daniela and Casey, Graham and Knight, Julia A. and Southey, Melissa C. and Giles, Graham G. and Santella, Regina M. and Lee, Eunjung and Conti, David and Duggan, David and Gallinger, Steve and Haile, Robert and Jenkins, Mark and Lindor, Noralane M. and Newcomb, Polly and Michailidou, Kyriaki and Apicella, Carmel and Park, Daniel J. and Peto, Julian and Fletcher, Olivia and dos Santos Silva, Isabel and Lathrop, Mark and Hunter, David J. and Chanock, Stephen J. and Meindl, Alfons and Schmutzler, Rita K. and Müller-Myhsok, Bertram and Lochmann, Magdalena and Beckmann, Lars and Hein, Rebecca and Makalic, Enes and Schmidt, Daniel F. and Bui, Quang Minh and Stone, Jennifer and Flesch-Janys, Dieter and Dahmen, Norbert and Nevanlinna, Heli and Aittomäki, Kristiina and Blomqvist, Carl and Hall, Per and Czene, Kamila and Irwanto, Astrid and Liu, Jianjun and Rahman, Nazneen and Turnbull, Clare and {Familial Breast Cancer Study} and Dunning, Alison M. and Pharoah, Paul and Waisfisz, Quinten and Meijers-Heijboer, Hanne and Uitterlinden, Andre G. and Rivadeneira, Fernando and Nicolae, Dan and Easton, Douglas F. and Cox, Nancy J. and Whittemore, Alice S.},
	month = apr,
	year = {2014},
	pmid = {24493630},
	pmcid = {PMC3990360},
	keywords = {Biomarkers, Tumor, Breast Neoplasms, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Middle Aged, Phosphofructokinase-1, Muscle Type, Polymorphism, Single Nucleotide},
	pages = {658--669},
}
Downloads: 0
About
Documentation
Keywords
Search
Users
Terms and Conditions of Use
Privacy Policy
Sitemap
© BibBase.org 2021