MicroRNA related polymorphisms and breast cancer risk. Khan, S., Greco, D., Michailidou, K., Milne, R. L., Muranen, T. A., Heikkinen, T., Aaltonen, K., Dennis, J., Bolla, M. K., Liu, J., Hall, P., Irwanto, A., Humphreys, K., Li, J., Czene, K., Chang-Claude, J., Hein, R., Rudolph, A., Seibold, P., Flesch-Janys, D., Fletcher, O., Peto, J., dos Santos Silva, I., Johnson, N., Gibson, L., Aitken, Z., Hopper, J. L., Tsimiklis, H., Bui, M., Makalic, E., Schmidt, D. F., Southey, M. C., Apicella, C., Stone, J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M. A., van der Luijt, R. B., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lichtner, P., Turnbull, C., Rahman, N., Chanock, S. J., Hunter, D. J., Cox, A., Cross, S. S., Reed, M. W. R., Schmidt, M. K., Broeks, A., Van't Veer, L. J., Hogervorst, F. B., Fasching, P. A., Schrauder, M. G., Ekici, A. B., Beckmann, M. W., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Benitez, J., Zamora, P. M., Perez, J. I. A., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Pharoah, P. D. P., Dunning, A. M., Shah, M., Luben, R., Brown, J., Couch, F. J., Wang, X., Vachon, C., Olson, J. E., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M., Guénel, P., Truong, T., Laurent-Puig, P., Mulot, C., Marme, F., Burwinkel, B., Schneeweiss, A., Sohn, C., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Andrulis, I. L., Knight, J. A., Tchatchou, S., Mulligan, A. M., Dörk, T., Bogdanova, N. V., Antonenkova, N. N., Anton-Culver, H., Darabi, H., Eriksson, M., Garcia-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., van Asperen, C. J., Kristensen, V. N., kConFab Investigators, Australian Ovarian Cancer Study Group, Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Lindblom, A., Margolin, S., Radice, P., Peterlongo, P., Barile, M., Mariani, P., Hooning, M. J., Martens, J. W. M., Collée, J. M., Jager, A., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Giles, G. G., McLean, C., Brauch, H., Brüning, T., Ko, Y., GENICA Network, Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., Simard, J., Goldberg, M. S., Labrèche, F., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Kataja, V., Kosma, V., Hartikainen, J. M., Mannermaa, A., Hamann, U., Chenevix-Trench, G., Blomqvist, C., Aittomäki, K., Easton, D. F., & Nevanlinna, H. PloS One, 9(11):e109973, 2014.
doi  abstract   bibtex   
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.
@article{khan_microrna_2014,
	title = {{MicroRNA} related polymorphisms and breast cancer risk},
	volume = {9},
	issn = {1932-6203},
	doi = {10.1371/journal.pone.0109973},
	abstract = {Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95\% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95\% CI: 0.95-0.99), rs10719 (OR 0.97; 95\% CI: 0.94-0.99), rs4687554 (OR 0.97; 95\% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95\% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.},
	language = {eng},
	number = {11},
	journal = {PloS One},
	author = {Khan, Sofia and Greco, Dario and Michailidou, Kyriaki and Milne, Roger L. and Muranen, Taru A. and Heikkinen, Tuomas and Aaltonen, Kirsimari and Dennis, Joe and Bolla, Manjeet K. and Liu, Jianjun and Hall, Per and Irwanto, Astrid and Humphreys, Keith and Li, Jingmei and Czene, Kamila and Chang-Claude, Jenny and Hein, Rebecca and Rudolph, Anja and Seibold, Petra and Flesch-Janys, Dieter and Fletcher, Olivia and Peto, Julian and dos Santos Silva, Isabel and Johnson, Nichola and Gibson, Lorna and Aitken, Zoe and Hopper, John L. and Tsimiklis, Helen and Bui, Minh and Makalic, Enes and Schmidt, Daniel F. and Southey, Melissa C. and Apicella, Carmel and Stone, Jennifer and Waisfisz, Quinten and Meijers-Heijboer, Hanne and Adank, Muriel A. and van der Luijt, Rob B. and Meindl, Alfons and Schmutzler, Rita K. and Müller-Myhsok, Bertram and Lichtner, Peter and Turnbull, Clare and Rahman, Nazneen and Chanock, Stephen J. and Hunter, David J. and Cox, Angela and Cross, Simon S. and Reed, Malcolm W. R. and Schmidt, Marjanka K. and Broeks, Annegien and Van't Veer, Laura J. and Hogervorst, Frans B. and Fasching, Peter A. and Schrauder, Michael G. and Ekici, Arif B. and Beckmann, Matthias W. and Bojesen, Stig E. and Nordestgaard, Børge G. and Nielsen, Sune F. and Flyger, Henrik and Benitez, Javier and Zamora, Pilar M. and Perez, Jose I. A. and Haiman, Christopher A. and Henderson, Brian E. and Schumacher, Fredrick and Le Marchand, Loic and Pharoah, Paul D. P. and Dunning, Alison M. and Shah, Mitul and Luben, Robert and Brown, Judith and Couch, Fergus J. and Wang, Xianshu and Vachon, Celine and Olson, Janet E. and Lambrechts, Diether and Moisse, Matthieu and Paridaens, Robert and Christiaens, Marie-Rose and Guénel, Pascal and Truong, Thérèse and Laurent-Puig, Pierre and Mulot, Claire and Marme, Frederick and Burwinkel, Barbara and Schneeweiss, Andreas and Sohn, Christof and Sawyer, Elinor J. and Tomlinson, Ian and Kerin, Michael J. and Miller, Nicola and Andrulis, Irene L. and Knight, Julia A. and Tchatchou, Sandrine and Mulligan, Anna Marie and Dörk, Thilo and Bogdanova, Natalia V. and Antonenkova, Natalia N. and Anton-Culver, Hoda and Darabi, Hatef and Eriksson, Mikael and Garcia-Closas, Montserrat and Figueroa, Jonine and Lissowska, Jolanta and Brinton, Louise and Devilee, Peter and Tollenaar, Robert A. E. M. and Seynaeve, Caroline and van Asperen, Christi J. and Kristensen, Vessela N. and {kConFab Investigators} and {Australian Ovarian Cancer Study Group} and Slager, Susan and Toland, Amanda E. and Ambrosone, Christine B. and Yannoukakos, Drakoulis and Lindblom, Annika and Margolin, Sara and Radice, Paolo and Peterlongo, Paolo and Barile, Monica and Mariani, Paolo and Hooning, Maartje J. and Martens, John W. M. and Collée, J. Margriet and Jager, Agnes and Jakubowska, Anna and Lubinski, Jan and Jaworska-Bieniek, Katarzyna and Durda, Katarzyna and Giles, Graham G. and McLean, Catriona and Brauch, Hiltrud and Brüning, Thomas and Ko, Yon-Dschun and {GENICA Network} and Brenner, Hermann and Dieffenbach, Aida Karina and Arndt, Volker and Stegmaier, Christa and Swerdlow, Anthony and Ashworth, Alan and Orr, Nick and Jones, Michael and Simard, Jacques and Goldberg, Mark S. and Labrèche, France and Dumont, Martine and Winqvist, Robert and Pylkäs, Katri and Jukkola-Vuorinen, Arja and Grip, Mervi and Kataja, Vesa and Kosma, Veli-Matti and Hartikainen, Jaana M. and Mannermaa, Arto and Hamann, Ute and Chenevix-Trench, Georgia and Blomqvist, Carl and Aittomäki, Kristiina and Easton, Douglas F. and Nevanlinna, Heli},
	year = {2014},
	pmid = {25390939},
	pmcid = {PMC4229095},
	keywords = {3' Untranslated Regions, Binding Sites, Breast Neoplasms, Case-Control Studies, Chromosome Mapping, Computational Biology, Female, Genome-Wide Association Study, Genotype, Humans, MicroRNAs, Polymorphism, Single Nucleotide, Receptors, Estrogen},
	pages = {e109973},
}
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