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

Jingjing Liu; Ivona Lončar; J Margriet Collée; Manjeet K Bolla; Joe Dennis; Kyriaki Michailidou; Qin Wang; Irene L Andrulis; Monica Barile; Nicholas Orr

doi:10.1038/srep36874

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

Jingjing Liu, Ivona Lončar, J Margriet Collée, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Irene L Andrulis, Monica Barile, Nicholas Orr

School of Medicine, Dentistry and Biomedical Sciences

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Abstract

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.

Original language	English
Journal	Scientific Reports
DOIs	https://doi.org/10.1038/srep36874
Publication status	Published - 15 Nov 2016

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rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk
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@article{eae3b1780d594ae69373dd1b102ae578,

title = "rs2735383, located at a microRNA binding site in the 3{\textquoteright}UTR of NBS1, is not associated with breast cancer risk",

abstract = "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.",

author = "Jingjing Liu and Ivona Lon{\v c}ar and Coll{\'e}e, {J Margriet} and Bolla, {Manjeet K} and Joe Dennis and Kyriaki Michailidou and Qin Wang and Andrulis, {Irene L} and Monica Barile and Nicholas Orr",

year = "2016",

month = nov,

day = "15",

doi = "10.1038/srep36874",

language = "English",

journal = "Nature Scientific Reports",

issn = "2045-2322",

publisher = "Nature Publishing Group",

}

rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk. / Liu, Jingjing; Lončar, Ivona; Collée, J Margriet; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Andrulis, Irene L; Barile, Monica; Orr, Nicholas.

In: Scientific Reports, 15.11.2016.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

AU - Liu, Jingjing

AU - Lončar, Ivona

AU - Collée, J Margriet

AU - Bolla, Manjeet K

AU - Dennis, Joe

AU - Michailidou, Kyriaki

AU - Wang, Qin

AU - Andrulis, Irene L

AU - Barile, Monica

AU - Orr, Nicholas

PY - 2016/11/15

Y1 - 2016/11/15

N2 - 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.

AB - 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.

U2 - 10.1038/srep36874

DO - 10.1038/srep36874

M3 - Article

JO - Nature Scientific Reports

JF - Nature Scientific Reports

SN - 2045-2322

ER -

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

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