Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer

Liu,Dan; Gao,Ya; Li,Lingling; Chen,He; Bai,Lu; Qu,Yanli; Zhou,Baosen; Yan,Ying; Zhao,Yuxia

doi:10.3892/ol.2021.12685

Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer

Authors:
- Dan Liu
- Ya Gao
- Lingling Li
- He Chen
- Lu Bai
- Yanli Qu
- Baosen Zhou
- Ying Yan
- Yuxia Zhao
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Affiliations: Department of Radiation Oncology, The Fourth Affiliated Hospital of China Medical University, Shenyang, Liaoning 110032, P.R. China, Department of Radiation Oncology, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning 110001, P.R. China, Department of Radiation Oncology, Cancer Hospital of China Medical University, Liaoning Cancer Hospital and Institute, Shenyang, Liaoning 110042, P.R. China, Department of Epidemiology, China Medical University, Shenyang, Liaoning 110001, P.R. China
Published online on: March 29, 2021 https://doi.org/10.3892/ol.2021.12685
Article Number: 424

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Abstract

BRCA1 is a tumor suppressor that has been found to be involved DNA synthesis during cell replication. In a recent study, the single nucleotide polymorphism (SNP), rs799917, in BRCA1 was found to be associated with the development and progression of various types of tumor. In the present study, the association between rs799917 and susceptibility to lung cancer was evaluated in a Han Chinese population in the Liaoning Province of China. The BRCA1 rs799917 genotypes (C/C, C/T and T/T) were analyzed using TaqMan quantitative PCR in 682 patients with lung cancer and 694 healthy controls, and the results were analyzed using a Student's t‑test, a χ² test and logistic regression analysis. Individuals carrying the C/T or T/T genotype had a lower risk of lung cancer compared with those carrying the C/C genotype [odds ratio (OR), 0.741; P=0.021; and OR, 0.610; P=0.011, respectively). The C/T + T/T genotype group had an even lower risk (OR, 0.709; P=0.005) compared with that in the C/C genotype group. In the stratified analyses of non‑smokers, individuals with the C/T or T/T genotype had a lower risk of developing lung cancer compared with that in those carrying the C/C genotype (OR, 0.681; P=0.013; and OR, 0.569; P=0.021, respectively). The stratified analyses of the BRCA1 rs799917 polymorphism based on pathological type, chemotherapy and radiotherapy, showed that in the squamous cell carcinoma, non‑chemotherapy and non‑radiotherapy subgroups, individuals with the T/T genotype had a lower risk of lung cancer compared with that in those carrying the C/C genotype (OR, 0.454; P=0.007; OR, 0.485; P=0.002; and OR, 0.599; P=0.020, respectively). In conclusion, the T allele of the rs799917 SNP in BRCA1 was associated with a lower risk of lung cancer in the ethnic Han Chinese population in Liaoning Province and may represent a protective factor against lung cancer.

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1	Wild CP, Weiderpass E and Stewart BW: World Cancer Report: Cancer research for cancer prevention. Lyon, France: International Agency for Research on Cancer; 2020
2	Jemal A, Bray F, Center MM, Ferlay J, Ward E and Forman D: Global cancer statistics. CA Cancer J Clin. 61:69–90. 2011. View Article : Google Scholar : PubMed/NCBI
3	Alberg AJ, Ford JG and Samet JM; American College of Chest Physicians, : Epidemiology of lung cancer: ACCP evidence-based clinical practice guidelines (2nd edition). Chest. 132 (Suppl 3):29S–55S. 2007. View Article : Google Scholar : PubMed/NCBI
4	Tiseo M, Bordi P, Bortesi B, Boni L, Boni C, Baldini E, Grossi F, Recchia F, Zanelli F, Fontanini G, et al: ERCC1/BRCA1 expression and gene polymorphisms as prognostic and predictive factors in advanced NSCLC treated with or without cisplatin. Br J Cancer. 108:1695–1703. 2013. View Article : Google Scholar : PubMed/NCBI
5	Sallum LF, Andrade L, Bastos Eloy da Costa L, Ramalho S, Ferracini AC, Natal RA, Brito ABC, Sarian LO and Derchain S: BRCA1, Ki67, and β-catenin immunoexpression is not related to differentiation, platinum response, or prognosis in women with low- and high-grade serous ovarian carcinoma. Int J Gynecol Cancer. 28:437–447. 2018. View Article : Google Scholar : PubMed/NCBI
6	Huyton T, Bates PA, Zhang X, Sternberg MJ and Freemont PS: The BRCA1 C-terminal domain: Structure and function. Mutat Res. 460:319–332. 2000. View Article : Google Scholar : PubMed/NCBI
7	Fairley S, Lowy-Gallego E, Perry E and Flicek P: The international genome sample resource (IGSR) collection of open human genomic variation resources. Nucleic Acids Res. 48(D1): D941–D947. 2020. View Article : Google Scholar : PubMed/NCBI
8	NCBI. Gene Database. RefSeq, . 2020.https://www.ncbi.nlm.nih.gov/gene/672
9	Morris JR, Pangon L, Boutell C, Katagiri T, Keep NH and Solomon E: Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. Hum Mol Genet. 15:599–606. 2006. View Article : Google Scholar : PubMed/NCBI
10	Moynahan ME and Jasin M: Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis. Nat Rev Mol Cell Biol. 11:196–207. 2010. View Article : Google Scholar : PubMed/NCBI
11	Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 266:66–71. 1994. View Article : Google Scholar : PubMed/NCBI
12	Ho MM, Ng AV, Lam S and Hung JY: Side population in human lung cancer cell lines and tumors is enriched with stem-like cancer cells. Cancer Res. 67:4827–4833. 2007. View Article : Google Scholar : PubMed/NCBI
13	Clark SL, Rodriguez AM, Snyder RR, Hankins GD and Boehning D: Structure-function of the tumor suppressor BRCA1. Comput Struct Biotechnol J. 1:e2012040052012. View Article : Google Scholar : PubMed/NCBI
14	Medema RH and Macůrek L: Checkpoint control and cancer. Oncogene. 31:2601–2613. 2012. View Article : Google Scholar : PubMed/NCBI
15	Symington LS and Gautier J: Double-strand break end resection and repair pathway choice. Annu Rev Genet. 45:247–271. 2011. View Article : Google Scholar : PubMed/NCBI
16	Scully R and Livingston DM: In search of the tumour-suppressor functions of BRCA1 and BRCA2. Nature. 408:429–432. 2000. View Article : Google Scholar : PubMed/NCBI
17	Venkitaraman AR: Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 108:171–182. 2002. View Article : Google Scholar : PubMed/NCBI
18	Nicoloso MS, Sun H, Spizzo R, Kim H, Wickramasinghe P, Shimizu M, Wojcik SE, Ferdin J, Kunej T, Xiao L, et al: Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility. Cancer Res. 70:2789–2798. 2010. View Article : Google Scholar : PubMed/NCBI
19	Detterbeck FC, Boffa DJ, Kim AW and Tanoue LT: The eighth edition lung cancer stage classification. Chest. 151:193–203. 2017. View Article : Google Scholar : PubMed/NCBI
20	World Health Organization, . Guidelines for controlling and monitoring the tobacco epidemic. Geneva, Switzerland: WHO; 1998
21	Wang HT, Gao Y, Zhao YX, Yu H, Wang TL, Bai L, Chen YZ, Zhang HB, Zhou BS, Qu YL, et al: PARP-1 rs3219073 polymorphism may contribute to susceptibility to lung cancer. Genet Test Mol Biomarkers. 18:736–740. 2014. View Article : Google Scholar : PubMed/NCBI
22	Livak KJ and Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods. 25:402–408. 2001. View Article : Google Scholar : PubMed/NCBI
23	Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, et al: Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol. 35:1086–1095. 2017. View Article : Google Scholar : PubMed/NCBI
24	Grynberg M, Raad J, Comtet M, Vinolas C, Cédrin-Durnerin I and Sonigo C: Fertility preservation in BRCA-mutated women: When and how? Future Oncol. 14:483–490. 2018. View Article : Google Scholar : PubMed/NCBI
25	Torre LA, Siegel RL and Jemal A: Lung cancer statistics. Adv Exp Med Biol. 893:1–19. 2016. View Article : Google Scholar : PubMed/NCBI
26	Kennedy RD, Quinn JE, Johnston PG and Harkin DP: BRCA1: Mechanisms of inactivation and implications for management of patients. Lancet. 360:1007–1014. 2002. View Article : Google Scholar : PubMed/NCBI
27	Qiang L, Yang Y, Ma YJ, Chen FH, Zhang LB, Liu W, Qi Q, Lu N, Tao L, Wang XT, et al: Isolation and characterization of cancer stem like cells in human glioblastoma cell lines. Cancer Lett. 279:13–21. 2009. View Article : Google Scholar : PubMed/NCBI
28	Wu J, Lu LY and Yu X: The role of BRCA1 in DNA damage response. Protein Cell. 1:117–123. 2010. View Article : Google Scholar : PubMed/NCBI
29	Chatterjee N and Walker GC: Mechanisms of DNA damage, repair, and mutagenesis. Environ Mol Mutagen. 58:235–263. 2017. View Article : Google Scholar : PubMed/NCBI
30	Moynahan ME, Cui TY and Jasin M: Homology-directed dna repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brca1 mutation. Cancer Res. 61:4842–4850. 2001.PubMed/NCBI
31	Wu HC, Delgado-Cruzata L, Machella N, Wang Q, Santella RM and Terry MB: DNA double-strand break repair genotype and phenotype and breast cancer risk within sisters from the New York site of the breast cancer family registry (BCFR). Cancer Causes Control. 24:2157–2168. 2013. View Article : Google Scholar : PubMed/NCBI
32	Chang JS, Yeh RF, Wiencke JK, Wiemels JL, Smirnov I, Pico AR, Tihan T, Patoka J, Miike R, Sison JD, et al: Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests. Cancer Epidemiol Biomarkers Prev. 17:1368–1373. 2008. View Article : Google Scholar : PubMed/NCBI
33	Li D, Wang Q, Liu C, Duan H, Zeng X, Zhang B, Li X, Zhao J, Tang S, Li Z, et al: Aberrant expression of miR-638 contributes to benzo(a)pyrene-induced human cell transformation. Toxicol Sci. 125:382–391. 2012. View Article : Google Scholar : PubMed/NCBI
34	Sirisena ND, Adeyemo A, Kuruppu AI, Samaranayake N and Dissanayake VHW: Genetic variants associated with clinicopathological profiles in sporadic breast cancer in Sri Lankan women. J Breast Cancer. 21:165–172. 2018. View Article : Google Scholar : PubMed/NCBI
35	Yang M, Du X, Zhang F and Yuan S: Association between BRCA1 polymorphisms rs799917 and rs1799966 and breast cancer risk: A meta-analysis. J Int Med Res. 47:1409–1416. 2019. View Article : Google Scholar : PubMed/NCBI
36	Ghafouri-Fard S, Dianatpour A and Faramarzi S: Meta-analysis of BRCA1 polymorphisms and breast cancer susceptibility. Klin Onkol. 31:330–338. 2018. View Article : Google Scholar : PubMed/NCBI
37	Ma J, Liu M, Zhang X and BuRi G: Correlation anslysis of sporadic breast cancer and BRCA1 gene plymorphisms in the Han nationality and the Mongol nationality of inner Mongolia region. Zhonghua Yi Xue Za Zhi. 95:3746–3749. 2015.(In Chinese). PubMed/NCBI
38	Qin TT, Chen T, Zhang Q, Du HN, Shu YQ, Luo K and Zhu LJ: Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-analysis of 19,878 subjects. Biomed Pharmacother. 68:905–910. 2014. View Article : Google Scholar : PubMed/NCBI
39	Zhou X, Han S, Wang S, Chen X, Dong J, Shi X, Xia Y, Wang X, Hu Z and Shen H: Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: A case-control analysis. Gynecol Oncol. 114:327–331. 2009. View Article : Google Scholar : PubMed/NCBI
40	Zhang X, Wei J, Zhou L, Zhou C, Shi J, Yuan Q, Yang M and Lin D: A functional BRCA1 coding sequence genetic variant contributes to risk of esophageal squamous cell carcinoma. Carcinogenesis. 34:2309–2313. 2013. View Article : Google Scholar : PubMed/NCBI
41	Lee SY, Kang HG, Yoo SS, Kang YR, Choi YY, Lee WK, Choi JE, Jeon HS, Shin KM, Oh IJ, et al: Polymorphisms in DNA repair and apoptosis-related genes and clinical outcomes of patients with non-small cell lung cancer treated with first-line paclitaxel-cisplatin chemotherapy. Lung Cancer. 82:330–339. 2013. View Article : Google Scholar : PubMed/NCBI
42	Wang K, Xu L, Pan L, Xu K and Li G: The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population. Tumour Biol. 36:393–397. 2015. View Article : Google Scholar : PubMed/NCBI
43	Xu GP, Zhao Q, Wang D, Xie WY, Zhang LJ, Zhou H, Chen SZ and Wu LF: The association between BRCA1 gene polymorphism and cancer risk: A meta-analysis. Oncotarget. 9:8681–8694. 2018. View Article : Google Scholar : PubMed/NCBI