Liu, JingjingLončar, IvonaCollée, J MargrietBolla, Manjeet KDennis, JoeMichailidou, KyriakiWang, QinAndrulis, Irene LBarile, MonicaBeckmann, Matthias WBehrens, SabineBenitez, JavierBlomqvist, CarlBoeckx, BramBogdanova, Natalia VBojesen, Stig EBrauch, HiltrudBrennan, PaulBrenner, HermannBroeks, AnnegienBurwinkel, BarbaraChang-Claude, JennyChen, Shou-TungChenevix-Trench, GeorgiaCheng, Ching YChoi, Ji-YeobCouch, Fergus JCox, AngelaCross, Simon SCuk, KatarinaCzene, KamilaDörk, ThiloDos-Santos-Silva, IsabelFasching, Peter AFigueroa, JonineFlyger, HenrikGarcía-Closas, MontserratGiles, Graham GGlendon, GordGoldberg, Mark SGonzalez Neira, AnnaGuénel, PascalHaiman, Christopher AHamann, UteHart, Steven NHartman, MikaelHatse, SigridHopper, John LIto, HidemiJakubowska, AnnaKabisch, MariaKang, DaeheeKosma, Veli-MattiKristensen, Vessela NLe Marchand, LoicLee, EunjungLi, JingmeiLophatananon, ArtitayaJan Lubinski, nullMannermaa, ArtoMatsuo, KeitaroMilne, Roger LNeuhausen, Susan LNevanlinna, HeliOrr, NickPerez, Jose I APeto, JulianPutti, Thomas CPylkäs, KatriRadice, PaoloSangrajrang, SuleepornSawyer, Elinor JSchmidt, Marjanka KSchneeweiss, AndreasShen, Chen-YangShrubsole, Martha JShu, Xiao-OuSimard, JacquesSouthey, Melissa CSwerdlow, AnthonyTeo, Soo HTessier, Daniel CThanasitthichai, SomchaiTomlinson, IanTorres, DianaTruong, ThérèseTseng, Chiu-ChenVachon, CelineWinqvist, RobertWu, Anna HYannoukakos, DrakoulisZheng, WeiHall, PerDunning, Alison MEaston, Douglas FHooning, Maartje Jvan den Ouweland, Ans M WMartens, John W MHollestelle, Antoinette2019-11-042019-11-042016Sci Rep. 2016 ;6:368742045-2322http://hdl.handle.net/20.500.12105/8558NBS1, 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.engVoRhttp://creativecommons.org/licenses/by-nc-sa/4.0/3' Untranslated RegionsAllelesBRCA1 ProteinBRCA2 ProteinBinding SitesBreast NeoplasmsCell Cycle ProteinsFemaleGenetic Predisposition to DiseaseGenotypeHumansMicroRNAsNuclear ProteinsOdds RatioPolymorphism, Single NucleotideRisk FactorsAtribución-NoComercial-CompartirIgual 4.0 Internacional27845421613687410.1038/srep368742045-2322Scientific reportsopen access