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Association Between Single-Nucleotide Polymorphisms in Breast Cancer Susceptibility Genes and Clinicopathological Characteristics

Authors Wang S, Zhang K, Tang L, Yang Y, Wang H, Zhou Z, Pang J, Chen F

Received 16 November 2020

Accepted for publication 21 January 2021

Published 16 February 2021 Volume 2021:13 Pages 103—112


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Eyal Cohen

Shouman Wang,1,2 Kejing Zhang,1,2 Lili Tang,1,2 Yuan Yang,1,2 Hao Wang,3 Zhiyang Zhou,1,2 Jian Pang,1,2 Feiyu Chen1,2

1Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha, Hunan Province, People’s Republic of China; 2Clinical Research Center for Breast Cancer in Hunan Province, Changsha, Hunan Province, People’s Republic of China; 3Department of Breast Surgery, Second People’s Hospital of Sichuan Province, Chengdu, Sichuan Province, People’s Republic of China

Correspondence: Feiyu Chen
Department of Breast Surgery, Xiangya Hospital, Central South University, No. 87 Xiangya Road, Changsha City, Hunan Province, 410008, People’s Republic of China
Tel +86 13467511343
Fax +86 073189753615

Objective: The purpose of the present study was to evaluate the associations between seven tagging single nucleotide polymorphisms (tSNPs) and risk of breast cancer assessed by tumor pathological characteristics and body mass index (BMI).
Methods: Seven tSNPs of four breast cancer susceptibility genes were analyzed in 734 Chinese women with breast cancer and 672 age-matched healthy controls; then, the association with clinicopathological characteristics, BMI, molecular subtype, TNM (T, tumor; N, lymph node; M, metastasis) staging and lymph node status was determined by unconditional logistic regression.
Results: Rs12951053 in TP53 and rs16945628 in BRIP1, displayed increased risk of breast cancer in the BMI ≧ 25 kg/m2 group (OR=1.50, 95% CI: 1.02– 2.21, P=0.041 and OR=1.92, 95% CI: 1.13– 3.26, P=0.015, respectively). The other five tSNPs (rs1805812, rs2735385 and rs6999227 in NBS1, rs7220719 in BRIP1 and rs2299941 in PTEN) displayed a decreased risk of breast cancer in the 18.5≤BMI< 25 kg/m2 group. Rs12951053 in TP53 and rs7220719 in BRIP1 exhibited an increased risk of triple‐negative breast cancer (OR=1.50, 95% CI: 1.05– 2.15, P=0.026 and OR=2.13, 95% CI: 1.05– 4.29, P=0.032, respectively), but three tSNPs in NBS1 (rs1805812, rs2735385 and rs6999227) all displayed a negative association with both luminal B and triple-negative breast cancer. The tSNP rs2299941 in PTEN also exhibited a negative association with each molecular subtype, except triple-negative breast cancer. The majority of tSNPs displayed a negative association with stage II or III breast cancer. Most tSNPs showed a negative association with breast cancer that was lymph node negative or with 1– 3 positive nodes. Only rs12951053 in TP53 displayed a positive association with lymph node-negative breast cancer (OR=1.43, 95% CI: 1.08– 1.91, P=0.013).
Conclusion: The majority of tSNPs displayed a negative association with breast cancer and only a few tSNPs (rs12951053 in TP53, rs16945628 and rs7220719 in BRIP1) showed an increased risk of breast cancer as defined by clinicopathological characteristics.

Keywords: breast cancer, SNP, molecular subtype, BRIP1, NBS1

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