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Open Access 01-12-2021 | Research article

Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis

Authors: Ilda Hoxhaj, Vladimir Vukovic, Stefania Boccia, Roberta Pastorino

Published in: BMC Cancer | Issue 1/2021

Abstract

Background

Head and Neck Cancer (HNC) survivors are at increased risk of developing a second primary cancer (SPC). Along with the environmental risk factors, genetic factors have been associated with a potential increased susceptibility to SPC development. We aim to identify the Single Nucleotide Polymorphisms (SNPs) that contribute to SPC development among HNC survivors through a systematic review and meta-analysis.

Methods

We searched PubMed, Scopus and ISI Web of Science for eligible studies published in English until January 31st, 2020. We included studies reporting primary data that evaluated the association between SNPs and SPC risk in HNC patients. Data were pooled in a random-effect meta-analyses, when at least two studies on the same SNP evaluated the same genotype model. Heterogeneity was assessed using the χ2-based Q-statistics and the I² statistics. Quality of the included studies was assessed using the Q-Genie tool.

Results

Twenty-one studies, of moderate to good quality, were included in the systematic review. Fifty-one genes were reported across the included studies to have significant associations with an increased SPC risk. Overall, 81 out of 122 investigated SNPs were significantly associated with the SPC risk. Seven studies were included in the meta-analysis, which showed five SNPs associated with an increased risk of SPC: p21C70T, CT + TT (HR = 1.76; 95% CI: 1.28–2.43); FASLG -844C > T, CT + TT (HR = 1.82; 95% CI: 1.35–2.46), P21 C98A, CA + AA (HR = 1.75; 95% CI: 1.28–2.38); FAS -670A > G (HR = 1.84; 95% CI: 1.28–2.66) and GST-M1, Null genotype (HR = 1.54; 95% CI: 1.13–2.10).

Conclusions

The identified SNPs in our systematic review and meta-analysis might serve as potential markers for identification of patients at high risk of developing SPC after primary HNC.

PROSPERO Registration Number

CRD42019135612.

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Ferlay J, Colombet M, Soerjomataram I, Mathers C, Parkin DM, Piñeros M, Znaor A, Bray F. Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods. Int J Cancer. 2019;144(8):1941-53. https://doi.org/10.1002/ijc.31937.

Liao LJ, Hsu WL, Lo WC, Cheng PW, Shueng PW, Hsieh CH. Health-related quality of life and utility in head and neck cancer survivors. BMC Cancer. 2019;19(1):425. https://doi.org/10.1186/s12885-019-5614-4.

Chen JH, Yen YC, Chen TM, Yuan KSP, Lee FP, Lin KC, et al. Survival prognostic factors for metachronous second primary head and neck squamous cell carcinoma. Cancer Med. 2017;6(1):142–53 Available from: https://pubmed.ncbi.nlm.nih.gov/27987269/. [cited 2020 Jul 22].CrossRef

Hoxhaj I, Hysaj O, Vukovic V, Leoncini E, Amore R, Pastorino R, et al. Occurrence of metachronous second primary cancer in head and neck cancer survivors: A systematic review and meta-analysis of the literature. Eur J Cancer Care (Engl). 2020; [cited 2020 Sep 21]; Available from: https://onlinelibrary.wiley.com/doi/full/10.1111/ecc.13255.

Zhang WL, Zhu ZL, Huang MC, Tang YJ, Tang YL, Liang XH. Susceptibility of Multiple Primary Cancers in Patients With Head and Neck Cancer: Nature or Nurture? Front Oncol. 2019;9:1275. https://doi.org/10.3389/fonc.2019.01275.

Denaro N, Merlano MC, Russi EG. Follow-up in Head and Neck Cancer: Do More Does It Mean Do Better? A Systematic Review and Our Proposal Based on Our Experience. Clin Exp Otorhinolaryngol. 2016;9(4):287–97 Available from: http://www.e-ceo.org/journal/view.php?doi=10.21053/ceo.2015.00976. [cited 2018 Jul 31].CrossRef

Michmerhuizen NL, Birkeland AC, Bradford CR, Brenner JC. Genetic determinants in head and neck squamous cell carcinoma and their influence on global personalized medicine. Genes and Cancer. 2016;7(5–6):182–200. https://doi.org/10.18632/genesandcancer.110.CrossRefPubMed

Hopkins J, Cescon DW, Tse D, Bradbury P, Xu W, Ma C, et al. Genetic polymorphisms and head and neck cancer outcomes: a review. Cancer Epidemiol Biomark Prev. 2008;17(3):490–9. https://doi.org/10.1158/1055-9965.EPI-07-2714.CrossRef

Riaz N, Morris LG, Lee W, Chan TA. Unraveling the molecular genetics of head and neck cancer through genome-wide approaches. Genes Dis. 2014;1(1):75–86. https://doi.org/10.1016/j.gendis.2014.07.002.CrossRefPubMedPubMedCentral

10.

Vukovic V, Stojanovic J, Vecchioni A, Pastorino R, Boccia S. Systematic review and Meta-analysis of SNPs from genome-wide association studies of head and neck Cancer. Otolaryngol - Head Neck Surg (United States). 2018;159(4):615–24. https://doi.org/10.1177/0194599818792262.CrossRef

11.

Deng N, Zhou H, Fan H, Yuan Y. Single nucleotide polymorphisms and cancer susceptibility. Oncotarget. 2017;8(66):110635–49. https://doi.org/10.18632/oncotarget.22372.CrossRefPubMedPubMedCentral

12.

Kasradze D, Juodzbalys G, Guobis Z, Gervickas A, Cicciù M. Genetic and proteomic biomarkers of head-and-neck cancer: A systematic review. J Cancer Res Ther. 2020;16(3):410 Available from: http://www.cancerjournal.net/text.asp?2020/16/3/410/264692. [cited 2020 Sep 21].CrossRef

13.

Leoncini E, Vukovic V, Cadoni G, et al. Tumour stage and gender predict recurrence and second primary malignancies in head and neck cancer: a multicentre study within the INHANCE consortium. Eur J Epidemiol. 2018;33:1205–18. https://doi.org/10.1007/s10654-018-0409-5. [cited 2018 Jul 31].

14.

Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gøtzsche PC, Ioannidis JP, Clarke M, Devereaux PJ, Kleijnen J, Moher D. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration. BMJ. 2009;339:b2700. https://doi.org/10.1136/bmj.b2700.

15.

Warren S. Multiple primary malignant tumors. A survey of the literature and a statistical study. Am J Cancer. 1932;16:1358–414 Available from: https://ci.nii.ac.jp/naid/10005037946/. [cited 2018 Jul 31].

16.

GWAS - RA. GWAS Catalog [Internet]. 2015 [cited 2020 Sep 21]. p. 1–49. Available from: https://www.ebi.ac.uk/gwas/

17.

NCBI. Home - dbGaP - NCBI [Internet]. Www.Ncbi.Nlm.Nih.Gov. [cited 2020 Sep 21]. Available from: https://www.ncbi.nlm.nih.gov/gap/

18.

GRASP. GRASP Search [Internet]. [cited 2020 Sep 21]. Available from: https://grasp.nhlbi.nih.gov/Search.aspx

19.

Sohani ZN, Meyre D, de Souza RJ, Joseph PG, Gandhi M DB. Quality of genetic association studies (Q-Genie). 2015;1–4. Available from: http://fhs.mcmaster.ca/pgp/links.html. [cited 2020 Sep 21].

20.

Riley RD, Higgins JP, Deeks JJ. Interpretation of random effects meta-analyses. BMJ. 2011;342:d549. https://doi.org/10.1136/bmj.d549.

21.

Dwyer T, Couper D, Walter SD. Sources of heterogeneity in the meta-analysis of observational studies: the example of SIDS and sleeping position. J Clin Epidemiol. 2001;54(5):440-7. https://doi.org/10.1016/s0895-4356(00)00313-9.

22.

Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315(7109):629–34 Available from: http://www.ncbi.nlm.nih.gov/pubmed/9310563. [cited 2018 Jul 31].CrossRef

23.

Li F, Sturgis EMEMEM, Chen X, Zafereo MEME, Wei Q, Li G. Association of p53 codon 72 polymorphism with risk of second primary malignancy in patients with squamous cell carcinoma of the head and neck. Cancer. 2010;116(10):2350–9. https://doi.org/10.1002/cncr.25072.CrossRefPubMedPubMedCentral

24.

Wang J, Lippman SMSM, Lee JJJ, Yang H, Khuri FRFR, Kim E, et al. Genetic variations in regulator of G-protein signaling genes as susceptibility loci for second primary tumor/recurrence in head and neck squamous cell carcinoma. Carcinogenesis. 2010;31(10):1755–61. https://doi.org/10.1093/carcin/bgq138.CrossRefPubMedPubMedCentral

25.

Lei D, Sturgis EM, Wang L-E, Liu Z, Zafereo ME, Wei Q, et al. FAS and FASLG genetic variants and risk for second primary malignancy in patients with squamous cell carcinoma of the head and neck. Cancer Epidemiol Biomark Prev. 2010;19(6):1484–91. https://doi.org/10.1158/1055-9965.EPI-10-0030.CrossRef

26.

Guan X, Liu Z, Liu H, Yu H, Wang LE, Sturgis EM, Li G, Wei Q. A functional variant at the miR-885-5p binding site of CASP3 confers risk of both index and second primary malignancies in patients with head and neck cancer. FASEB J. 2013;27(4):1404-12. https://doi.org/10.1096/fj.12-223420.

27.

Zhang Y, Sturgis EM, Huang Z, Zafereo ME, Wei Q, Li G. Genetic variants of the p53 and p73 genes jointly increase risk of second primary malignancies in patients after index squamous cell carcinoma of the head and neck. Cancer. 2012;118(2):485–92. https://doi.org/10.1002/cncr.26222.CrossRefPubMed

28.

Gal TJ, Huang W-Y, Chen C, Hayes RB, Schwartz SM. DNA repair gene polymorphisms and risk of second primary neoplasms and mortality in oral cancer patients. Laryngoscope. 2005;115(12):2221–31. https://doi.org/10.1097/01.mlg.0000183736.96004.f7.CrossRefPubMed

29.

Sun Y, Yu W, Sturgis EM, Peng W, Lei D, Wei Q, Song X, Li G. Site disparities in apoptotic variants as predictors of risk for second primary malignancy in patients with squamous cell carcinoma of the head and neck. BMC Cancer. 2016;16:70. https://doi.org/10.1186/s12885-016-2110-y.

30.

Wang Z, Sturgis EMEM, Zhang F, Lei D, Liu Z, Xu L, et al. Genetic variants of p27 and p21 as predictors for risk of second primary malignancy in patients with index squamous cell carcinoma of head and neck. Mol Cancer. 2012s;11(1):17. https://doi.org/10.1186/1476-4598-11-17.CrossRefPubMedPubMedCentral

31.

Zhang Y, Sturgis EM, Zafereo ME, Wei Q, Li G. P14^ARF genetic polymorphisms and susceptibility to second primary malignancy in patients with index squamous cell carcinoma of the head and neck. Cancer. 2011;117(6):1227–35. https://doi.org/10.1002/cncr.25605.CrossRefPubMed

32.

Jin L, Sturgis EMEMEM, Zhang Y, Huang Z, Wei P, Guo W, et al. Genetic variants in p53-related genes confer susceptibility to second primary malignancy in patients with index squamous cell carcinoma of head and neck. Carcinogenesis. 2013;34(7):1551–7. https://doi.org/10.1093/carcin/bgt096.CrossRefPubMedPubMedCentral

33.

Azad AK, Bairati I, Qiu X, Huang H, Cheng D, Liu G, et al. Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients. Int J Cancer. 2013;132(11):2520–7. https://doi.org/10.1002/ijc.27946.CrossRefPubMed

34.

Minard CG, Spitz MR, Wu X, Hong WK, Etzel CJ. Evaluation of glutathione S-transferase polymorphisms and mutagen sensitivity as risk factors for the development of second primary tumors in patients previously diagnosed with early-stage head and neck cancer. Cancer. 2006;106(12):2636–44. https://doi.org/10.1002/cncr.21928.CrossRefPubMed

35.

Lee JJ, Wu X, Hildebrandt MAT, Yang H, Khuri FR, Kim E, et al. Global assessment of genetic variation influencing response to retinoid chemoprevention in head and neck cancer patients. Cancer Prev Res (Phila). 2011;4(2):185–93. https://doi.org/10.1158/1940-6207.CAPR-10-0125.CrossRef

36.

Wu X, Spitz MR, Lee JJ, Lippman SM, Ye Y, Yang H, et al. Novel susceptibility loci for second primary tumors/recurrence in head and neck cancer patients: large-scale evaluation of genetic variants. Cancer Prev Res (Phila). 2009;2(7):617–24. https://doi.org/10.1158/1940-6207.CAPR-09-0025.CrossRef

37.

Li F, Sturgis EM, Zafereo ME, Liu Z, Wang L-E, Wei Q, et al. p73 G4C14-to-A4T14 polymorphism and risk of second primary malignancy after index squamous cell carcinoma of head and neck. Int J Cancer. 2009;125(11):2660–5. https://doi.org/10.1002/ijc.24570.CrossRefPubMedPubMedCentral

38.

Zhang X, Yang H, Lee JJ, Kim E, Lippman SM, Khuri FR, et al. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. Carcinogenesis. 2010;31(12):2118–23. https://doi.org/10.1093/carcin/bgq177.CrossRefPubMedPubMedCentral

39.

Zafereo ME, Sturgis EM, Liu Z, Wang L-E, Wei Q, Li G. Nucleotide excision repair core gene polymorphisms and risk of second primary malignancy in patients with index squamous cell carcinoma of the head and neck. Carcinogenesis. 2009;30(6):997–1002. https://doi.org/10.1093/carcin/bgp096.CrossRefPubMedPubMedCentral

40.

Zafereo ME, Sturgis EM, Aleem S, Chaung K, Wei Q, Li G. Glutathione S-transferase polymorphisms and risk of second primary malignancy after index squamous cell carcinoma of the head and neck. Cancer Prev Res (Phila). 2009;2(5):432–9. https://doi.org/10.1158/1940-6207.CAPR-08-0222.CrossRef

41.

Leoncini E, Vukovic V, Cadoni G, Pastorino R, Arzani D, Bosetti C, et al. Clinical features and prognostic factors in patients with head and neck cancer: Results from a multicentric study. Cancer Epidemiol. 2015;39(3):367–74 Available from: http://www.ncbi.nlm.nih.gov/pubmed/25770642. [cited 2018 Jul 31].CrossRef

42.

Jefferies S, Kote-Jarai Z, Goldgar D, Houlston R, Frazer-Williams M-J, A’Hern R, et al. Association between polymorphisms of the GPX1 gene and second primary tumours after index squamous cell cancer of the head and neck. Oral Oncol. 2005;41(5):455–61. https://doi.org/10.1016/j.oraloncology.2004.09.012.CrossRefPubMed

43.

Lei D, Sturgis EM, Liu Z, Zafereo ME, Wei Q, Li G. Genetic polymorphisms of p21 and risk of second primary malignancy in patients with index squamous cell carcinoma of the head and neck. Carcinogenesis. 2010;31(2):222–7. https://doi.org/10.1093/carcin/bgp279.CrossRefPubMed

44.

Khuri FR, Lee JJ, Lippman SM, Kim ES, Cooper JS, Benner SE, et al. Randomized phase III trial of low-dose isotretinoin for prevention of second primary tumors in stage I and II head and neck cancer patients. J Natl Cancer Inst. 2006;98(7):441–50 Available from: https://pubmed.ncbi.nlm.nih.gov/16595780/. [cited 2020 Sep 21].CrossRef

45.

Zörnig M, Hueber A, Baum W, Evan G. Apoptosis regulators and their role in tumorigenesis. Biochim Biophys Acta. 2001;1551(2):F1-37. https://doi.org/10.1016/s0304-419x(01)00031-2. [cited 2020 Jul 22].

46.

Harris SL, Levine AJ. The p53 pathway: Positive and negative feedback loops [Internet]. Oncogene. 2005;24:2899–908 Available from: https://pubmed.ncbi.nlm.nih.gov/15838523/. [cited 2020 Jul 22].CrossRef

47.

Li G, Liu Z, Sturgis EM, Shi Q, Chamberlain RM, Spitz MR, Wei Q. Genetic polymorphisms of p21 are associated with risk of squamous cell carcinoma of the head and neck. Carcinogenesis. 2005;26(9):1596-602. https://doi.org/10.1093/carcin/bgi105.

48.

Roh JW, Kim JW, Park NH, Song YS, Park IA, Park SY, et al. p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer. Gynecol Oncol. 2004;93(2):499–505 Available from: https://pubmed.ncbi.nlm.nih.gov/15099969/. [cited 2020 Jul 22].CrossRef

49.

Keshava C, Frye BL, Wolff MS, McCanlies EC, Weston A. Waf-1 (p21) and p53 polymorphisms in breast cancer. Cancer Epidemiol Biomarkers Prev. 2002;11(1):127-30. Erratum in: Cancer Epidemiol Biomarkers Prev. 2004 Oct;13(10):1682. PMID: 11815410.

50.

Choi YY, Kang HK, Choi JE, Jang JS, Kim EJ, Cha SI, et al. Comprehensive assessment of P21 polymorphisms and lung cancer risk. J Hum Genet. 2008;53(1):87–95 Available from: http://www.ncbi.nlm.nih.gov/SNP. [cited 2020 Jul 22].CrossRef

51.

Chen J, Killary AM, Sen S, Amos CI, Evans DB, Abbruzzese JL, et al. Polymorphisms of p21 and p27 jointly contribute to an earlier age at diagnosis of pancreatic cancer. Cancer Lett. 2008;272(1):32–9. Available from: https://pubmed.ncbi.nlm.nih.gov/18694622/. [cited 2020 Jul 22].

52.

Zhang Z, Wang LE, Sturgis EM, El-Naggar AK, Hong WK, Amos CI, et al. Polymorphisms of FAS and FAS ligand genes involved in the death pathway and risk and progression of squamous cell carcinoma of the head and neck. Clin Cancer Res. 2006;12(18):5596–602 Available from: https://pubmed.ncbi.nlm.nih.gov/17000697/. [cited 2020 Jul 22].CrossRef

53.

Ueda M, Terai Y, Kanda K, Kanemura M, Takehara M, Yamaguchi H, et al. Fas gene promoter −670 polymorphism in gynecological cancer. Int J Gynecol Cancer. 2006;16(S1):179–82 Available from: https://ijgc.bmj.com/lookup/doi/10.1111/j.1525-1438.2006.00505.x. [cited 2020 Jul 22].CrossRef

54.

Sun T, Miao X, Zhang X, Tan W, Xiong P, Lin D. Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma. J Natl Cancer Inst. 2004;96(13):1030-6. https://doi.org/10.1093/jnci/djh187.

55.

Crew KD, Gammon MD, Terry MB, Zhang FF, Agrawal M, Eng SM, et al. Genetic polymorphisms in the apoptosis-associated genes FAS and FASL and breast cancer risk. Carcinogenesis. 2007;28(12):2548–51. https://doi.org/10.1093/carcin/bgm211.CrossRefPubMed

56.

Hashibe M, Brennan P, Strange RC, Bhisey R, Cascorbi I, Lazarus P, et al. Meta- and pooled analyses of GSTM1, GSTT1, GSTP1, and CYP1A1 genotypes and risk of head and neck cancer. Cancer Epidemiol Biomarkers Prev. 2003;12(12):1509–17 Available from: http://www.ncbi.nlm.nih.gov/pubmed/14693745. [cited 2020 Jul 22].PubMed

57.

Stücker I, Hirvonen A, de Waziers I, Cabelguenne A, Mitrunen K, Cénée S, et al. Genetic polymorphisms of glutathione S-transferases as modulators of lung cancer susceptibility - PubMed [Internet]. Carcinogenesis. 2002;23(9):1475–81. Available from: https://pubmed.ncbi.nlm.nih.gov/12189190/. [cited 2020 Jul 22].

58.

Park SK, Yim DS, Yoon KS, Choi IM, Choi JY, Yoo KY, et al. Combined effect of GSTM1, GSTT1, and COMT genotypes in individual breast cancer risk. Breast Cancer Res Treat. 2004;88(1):55–62. Available from: https://pubmed.ncbi.nlm.nih.gov/15538046/. [cited 2020 Jul 22].

Title: Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis
Authors: Ilda Hoxhaj
Vladimir Vukovic
Stefania Boccia
Roberta Pastorino
Publication date: 01-12-2021
Publisher: BioMed Central
Published in: BMC Cancer / Issue 1/2021
Electronic ISSN: 1471-2407
DOI: https://doi.org/10.1186/s12885-021-08335-0

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