rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk. Liu, J., Lončar, I., Collée, J. M., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Andrulis, I. L., Barile, M., Beckmann, M. W., Behrens, S., Benitez, J., Blomqvist, C., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Burwinkel, B., Chang-Claude, J., Chen, S., Chenevix-Trench, G., Cheng, C. Y., Choi, J., Couch, F. J., Cox, A., Cross, S. S., Cuk, K., Czene, K., Dörk, T., Dos-Santos-Silva, I., Fasching, P. A., Figueroa, J., Flyger, H., García-Closas, M., Giles, G. G., Glendon, G., Goldberg, M. S., González-Neira, A., Guénel, P., Haiman, C. A., Hamann, U., Hart, S. N., Hartman, M., Hatse, S., Hopper, J. L., Ito, H., Jakubowska, A., Kabisch, M., Kang, D., Kosma, V., Kristensen, V. N., Le Marchand, L., Lee, E., Li, J., Lophatananon, A., Jan Lubinski, n., Mannermaa, A., Matsuo, K., Milne, R. L., NBCS Collaborators, Neuhausen, S. L., Nevanlinna, H., Orr, N., Perez, J. I. A., Peto, J., Putti, T. C., Pylkäs, K., Radice, P., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schneeweiss, A., Shen, C., Shrubsole, M. J., Shu, X., Simard, J., Southey, M. C., Swerdlow, A., Teo, S. H., Tessier, D. C., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tseng, C., Vachon, C., Winqvist, R., Wu, A. H., Yannoukakos, D., Zheng, W., Hall, P., Dunning, A. M., Easton, D. F., Hooning, M. J., van den Ouweland, A. M. W., Martens, J. W. M., & Hollestelle, A. Scientific Reports, 6:36874, 2016.
doi abstract bibtex

NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G \textgreater C, located in a microRNA binding site in the 3'-untranslated region (UTR) of NBS1, was shown to be associated with increased susceptibility to lung and colorectal cancer. However, the relation between rs2735383 and susceptibility to breast cancer is not yet clear. Therefore, we genotyped rs2735383 in 1,170 familial non-BRCA1/2 breast cancer cases and 1,077 controls using PCR-based restriction fragment length polymorphism (RFLP-PCR) analysis, but found no association between rs2735383CC and breast cancer risk (OR = 1.214, 95% CI = 0.936-1.574, P = 0.144). Because we could not exclude a small effect size due to a limited sample size, we further analyzed imputed rs2735383 genotypes (r2 \textgreater 0.999) of 47,640 breast cancer cases and 46,656 controls from the Breast Cancer Association Consortium (BCAC). However, rs2735383CC was not associated with overall breast cancer risk in European (OR = 1.014, 95% CI = 0.969-1.060, P = 0.556) nor in Asian women (OR = 0.998, 95% CI = 0.905-1.100, P = 0.961). Subgroup analyses by age, age at menarche, age at menopause, menopausal status, number of pregnancies, breast feeding, family history and receptor status also did not reveal a significant association. This study therefore does not support the involvement of the genotype at NBS1 rs2735383 in breast cancer susceptibility.

@article{liu_rs2735383_2016,
	title = {rs2735383, located at a {microRNA} binding site in the 3'{UTR} of {NBS1}, is not associated with breast cancer risk},
	volume = {6},
	issn = {2045-2322},
	doi = {10.1038/srep36874},
	abstract = {NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G {\textgreater} C, located in a microRNA binding site in the 3'-untranslated region (UTR) of NBS1, was shown to be associated with increased susceptibility to lung and colorectal cancer. However, the relation between rs2735383 and susceptibility to breast cancer is not yet clear. Therefore, we genotyped rs2735383 in 1,170 familial non-BRCA1/2 breast cancer cases and 1,077 controls using PCR-based restriction fragment length polymorphism (RFLP-PCR) analysis, but found no association between rs2735383CC and breast cancer risk (OR = 1.214, 95\% CI = 0.936-1.574, P = 0.144). Because we could not exclude a small effect size due to a limited sample size, we further analyzed imputed rs2735383 genotypes (r2 {\textgreater} 0.999) of 47,640 breast cancer cases and 46,656 controls from the Breast Cancer Association Consortium (BCAC). However, rs2735383CC was not associated with overall breast cancer risk in European (OR = 1.014, 95\% CI = 0.969-1.060, P = 0.556) nor in Asian women (OR = 0.998, 95\% CI = 0.905-1.100, P = 0.961). Subgroup analyses by age, age at menarche, age at menopause, menopausal status, number of pregnancies, breast feeding, family history and receptor status also did not reveal a significant association. This study therefore does not support the involvement of the genotype at NBS1 rs2735383 in breast cancer susceptibility.},
	language = {eng},
	journal = {Scientific Reports},
	author = {Liu, Jingjing and Lončar, Ivona and Collée, J. Margriet and Bolla, Manjeet K. and Dennis, Joe and Michailidou, Kyriaki and Wang, Qin and Andrulis, Irene L. and Barile, Monica and Beckmann, Matthias W. and Behrens, Sabine and Benitez, Javier and Blomqvist, Carl and Boeckx, Bram and Bogdanova, Natalia V. and Bojesen, Stig E. and Brauch, Hiltrud and Brennan, Paul and Brenner, Hermann and Broeks, Annegien and Burwinkel, Barbara and Chang-Claude, Jenny and Chen, Shou-Tung and Chenevix-Trench, Georgia and Cheng, Ching Y. and Choi, Ji-Yeob and Couch, Fergus J. and Cox, Angela and Cross, Simon S. and Cuk, Katarina and Czene, Kamila and Dörk, Thilo and Dos-Santos-Silva, Isabel and Fasching, Peter A. and Figueroa, Jonine and Flyger, Henrik and García-Closas, Montserrat and Giles, Graham G. and Glendon, Gord and Goldberg, Mark S. and González-Neira, Anna and Guénel, Pascal and Haiman, Christopher A. and Hamann, Ute and Hart, Steven N. and Hartman, Mikael and Hatse, Sigrid and Hopper, John L. and Ito, Hidemi and Jakubowska, Anna and Kabisch, Maria and Kang, Daehee and Kosma, Veli-Matti and Kristensen, Vessela N. and Le Marchand, Loic and Lee, Eunjung and Li, Jingmei and Lophatananon, Artitaya and Jan Lubinski, null and Mannermaa, Arto and Matsuo, Keitaro and Milne, Roger L. and {NBCS Collaborators} and Neuhausen, Susan L. and Nevanlinna, Heli and Orr, Nick and Perez, Jose I. A. and Peto, Julian and Putti, Thomas C. and Pylkäs, Katri and Radice, Paolo and Sangrajrang, Suleeporn and Sawyer, Elinor J. and Schmidt, Marjanka K. and Schneeweiss, Andreas and Shen, Chen-Yang and Shrubsole, Martha J. and Shu, Xiao-Ou and Simard, Jacques and Southey, Melissa C. and Swerdlow, Anthony and Teo, Soo H. and Tessier, Daniel C. and Thanasitthichai, Somchai and Tomlinson, Ian and Torres, Diana and Truong, Thérèse and Tseng, Chiu-Chen and Vachon, Celine and Winqvist, Robert and Wu, Anna H. and Yannoukakos, Drakoulis and Zheng, Wei and Hall, Per and Dunning, Alison M. and Easton, Douglas F. and Hooning, Maartje J. and van den Ouweland, Ans M. W. and Martens, John W. M. and Hollestelle, Antoinette},
	year = {2016},
	pmid = {27845421},
	pmcid = {PMC5109293},
	keywords = {3' Untranslated Regions, Alleles, BRCA1 Protein, BRCA2 Protein, Binding Sites, Breast Neoplasms, Cell Cycle Proteins, Female, Genetic Predisposition to Disease, Genotype, Humans, MicroRNAs, Nuclear Proteins, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors},
	pages = {36874},
}

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