rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.
Date
2016-11-15ICR Author
Author
Liu, J
Lončar, I
Collée, JM
Bolla, MK
Dennis, J
Michailidou, K
Wang, Q
Andrulis, IL
Barile, M
Beckmann, MW
Behrens, S
Benitez, J
Blomqvist, C
Boeckx, B
Bogdanova, NV
Bojesen, SE
Brauch, H
Brennan, P
Brenner, H
Broeks, A
Burwinkel, B
Chang-Claude, J
Chen, S-T
Chenevix-Trench, G
Cheng, CY
Choi, J-Y
Couch, FJ
Cox, A
Cross, SS
Cuk, K
Czene, K
Dörk, T
Dos-Santos-Silva, I
Fasching, PA
Figueroa, J
Flyger, H
García-Closas, M
Giles, GG
Glendon, G
Goldberg, MS
González-Neira, A
Guénel, P
Haiman, CA
Hamann, U
Hart, SN
Hartman, M
Hatse, S
Hopper, JL
Ito, H
Jakubowska, A
Kabisch, M
Kang, D
Kosma, V-M
Kristensen, VN
Le Marchand, L
Lee, E
Li, J
Lophatananon, A
Jan Lubinski,
Mannermaa, A
Matsuo, K
Milne, RL
NBCS Collaborators,
Neuhausen, SL
Nevanlinna, H
Orr, N
Perez, JIA
Peto, J
Putti, TC
Pylkäs, K
Radice, P
Sangrajrang, S
Sawyer, EJ
Schmidt, MK
Schneeweiss, A
Shen, C-Y
Shrubsole, MJ
Shu, X-O
Simard, J
Southey, MC
Swerdlow, A
Teo, SH
Tessier, DC
Thanasitthichai, S
Tomlinson, I
Torres, D
Truong, T
Tseng, C-C
Vachon, C
Winqvist, R
Wu, AH
Yannoukakos, D
Zheng, W
Hall, P
Dunning, AM
Easton, DF
Hooning, MJ
van den Ouweland, AMW
Martens, JWM
Hollestelle, A
Type
Journal Article
Metadata
Show full item recordAbstract
NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > 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 > 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.
Collections
Subject
NBCS Collaborators
Humans
Breast Neoplasms
Genetic Predisposition to Disease
Cell Cycle Proteins
BRCA1 Protein
BRCA2 Protein
Nuclear Proteins
MicroRNAs
3' Untranslated Regions
Odds Ratio
Risk Factors
Binding Sites
Genotype
Polymorphism, Single Nucleotide
Alleles
Female
Research team
Complex Trait Genetics
Aetiological Epidemiology
Language
eng
Date accepted
2016-10-21
License start date
2016-11-15
Citation
Scientific reports, 2016, 6 pp. 36874 - ?
Publisher
NATURE PORTFOLIO