Are XPD and XPG gene variants related to the mechanism of oral squamous cell carcinoma?

Hakan Avci; Elif Sinem Iplik; Levent Aydemir; Senol Acar; Erkan Kiyak; Meral Unur; Bedia Cakmakoglu

doi:10.14715/cmb/2017.64.15.16

Issue

Vol. 64 No. 15: Issue 15

Issue Published : January 1, 2019

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Are XPD and XPG gene variants related to the mechanism of oral squamous cell carcinoma?

https://doi.org/10.14715/cmb/2017.64.15.16

Hakan Avci

Department of Otolaryngology, Kartal Dr. Lütfi Kırdar Training and Research Hospital, Istanbul, Turkey

Elif Sinem Iplik

Istanbul Yeni Yuzyil University, Faculty of Pharmacy, Department of Pharmaceutical Microbiology, Istanbul, Turkey

Levent Aydemir

Istanbul University, Istanbul Faculty of Medicine, Department of Otolaryngology Head and Neck Surgery, Istanbul, Turkey

Senol Acar

Bursa Orhaneli State Hospital, Department of Otolaryngology Head and Neck Surgery, Bursa, Turkey

Erkan Kiyak

Istanbul University, Istanbul Faculty of Medicine, Department of Otolaryngology Head and Neck Surgery, Istanbul, Turkey

Meral Unur

Department of Oral Surgery and Medicine, Dental Faculty, Istanbul University, Istanbul, Turkey

Bedia Cakmakoglu

Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, Istanbul, Turkey

http://orcid.org/0000-0001-7960-9131

Corresponding Author(s) : Bedia Cakmakoglu

bedia@istanbul.edu.tr

Cellular and Molecular Biology, Vol. 64 No. 15: Issue 15
Article Published : December 31, 2018

Abstract

Oral cavity cancers have anatomically a big part of the body system and include several types of cancer. The aim of the study is to investigate the relation between XPG and XPD gene variants in the DNA repair system and oral squamous cell cancers. A total of 111 patients with a pathologic diagnosis of oral squamous cell carcinoma and a control group of 148 healthy volunteers who presented to Istanbul Faculty of Medicine, Department of Otolaryngology & Head and Neck Surgery and Dentistry Faculty were included in the study. Isolation of DNA was achieved using an Invitrogen Purelink Genomic DNA Kit. XPD alleles of Lys751Gln (rs13181) and XPG Asp1104His (rs17655) loci from genomic DNA samples were reproduced using polymerase chain reaction. A statistically significant difference in XPD genotype distribution between control and patient groups was determined (P=0.019). XPD Lys+ was significantly more common in the patient group than in the control group, and a two-fold increased risk for disease was determined. XPD Gln/Gln+ was significantly more common in the control group than in the patient group, and a two-fold decrease in risk for disease was determined (P=0.045). In the other region of the study, there was no statistically significant difference in terms of disease development between XPG genotypes. In conclusion, Lys751Gln polymorphism in the XPD gene could play a role in oral squamous cell development. It is important to increase the numbers of subjects in patient groups and healthy controls in studies to increase the possibility of determining XPD's potential as a molecular risk factor.

Keywords

Oral squamous cell cancer XPG XPD DNA repair PCR-RFLP.

Avci, H., Iplik, E. S., Aydemir, L., Acar, S., Kiyak, E., Unur, M., & Cakmakoglu, B. (2018). Are XPD and XPG gene variants related to the mechanism of oral squamous cell carcinoma?. Cellular and Molecular Biology, 64(15), 94–99. https://doi.org/10.14715/cmb/2017.64.15.16

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References

Parkin DM, Laara E, Muri CS. Estimates of the worldwide frequency of sixteen major cancers in 1980. Int J Cancer 1988;41(2):184-97.
Boring CC, Squries TS, Tong T, Montgomery S. Cancer statistics, 1994. CA Cancer J Clin 1994; 44 (1): 7-26.
Howell RE, Wright BA, Dewar R. Trends in the incidence of oral cancer in Nova Scotia from 1983 to 1997. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003; 95(2):205-12.
Engin K, Erisen L (2003) Head and Neck Cancer. Nobel Tıp Kitabevi, Ankara.
Ghafoor A, Jemal A, Cokkinides V, Cardinez C, Murray T, Samuels A et al. Cancer statistics for African Americans, CA Cancer J Clin 2002; 52(6):326-41.
WHO Global Oral Health Programme, The World Oral Health Report 2003, Genova, 2003.
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Başerer N. Disease of Oral Cavity In: Engin K, Erişen L (eds). Baş-Boyun Kanserleri 1 th edn. Nobel Matbaacılık, Istanbul, 2003, pp 237-270.
Cawson RA, Binnie WH, Barrett AW, Wright JM. Oral Disease Clinical and Pathological Correlations. 3. ed. Mosby, Edinburgh 2001.
Rizzardi C, Frezzini C, Maglione M, Tireli G, Mauro M. A Look at the Biology of Spindle Cell Squamous Carcinoma of the Oral Cavity: Report of a Case. J Oral Maxillofac Surg 2003; 61:264-8.
Ellis GL, Corio RL. Spindle cell carcinoma of the oral cavity: A clinicopathologic assessment of fifty-nine cases. Oral Surg Oral Med Oral Pathol 1980; 50:528-34.
Epstein JB. Oral cancer In: Greennberg MS, Glick M. (eds) Burket's Oral Medicine Diagnosis and Treatment 10th ed. BC Decker Inc, Ontario, 2003, pp 194-234.
Neville BW, Damm MM, Allen CM, Bouquot JE. Oral and Maxillofacial Pathology. 1st ed. WB Saunders, Philadelphia, 1995, pp 259-321.
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Toida M, Shimokawa K, Makita H, Kato K, Kobayashi A, Kusunoki Y et al. Intraoral minor salivary gland tumors: a clinicopatho-logical study of 82 cases. Int J Oral Maxillofac Surg 2005; 34: 528-32.
Agius LM. Possible close analogy between HIV and EBV infection and, respectively, induced lymphomas. Med Hypotheses 2003; 60(6):874-9.
Serrano D, Carrión R, Balsalobre P, Miralles P, Berenguer J, Buño I et al. HIV-associated lymphoma succesfully treated with peripheral blood stem cell transplantation. Exp Hematol 2005; 33:487-94.
Gorsky M, Epstein JB. Head and neck and intra-oral soft tissue sarcomas. Oral Oncol 1998; 34:292-6.
Chigurupati R, Alfatooni A, Myall RWT, Hawkins D, Oda D . Orofacial rhabdomyosarcoma in neonates and young children: a review of literature and management of four cases. Oral Oncol 2002; 38:508-15.
Bras J, Batsakis JG, Lund MA. Rhabdomyosarcoma of the oral soft tissues. Oral Surg Oral Med Oral Pathol 1987; 64(5):585-96.
Santos DT, Cavalcanti MGP. Osteosarcoma of the temporomandibular joint: Report of two cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002; 94:641-7.
Sapp JP, Eversole LR, Wysocki GP. Contemporary Oral and Maxillofacial Pathology. 1st ed. Mosby St. Louis, 1997, pp 156-195.
Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb AL. Environmental and chemical carcinogenesis. Seminars in Cancer Biology 2004; 14:473-486.
Kokturk N, Kırısoglu CE, Ozturk C. Molecular biology of. Lung Disease, Solunum 2003; 5:127-138.
Ronen A, Glickman BW. Human DNA Repair Genes, Environmental and Molecular Mutagenesis 2001; 37:241-283.
Zhu ML, Wang M, Cao ZG, He J, Shi TY, Xia KQ et al. Association between the ERCC5 Asp1104His Polymorphism and Cancer Risk: A Meta-Analysis, PLoS ONE 2012; 7(7): e36293.
Blasiak J, Synowiec E, Salminen A, Kaarniranta K. Genetic Variability in DNA Repair Proteins in Age-Related Macular Degeneration, Int. J. Mol. Sci 2012; 13:13378-13397.
Xue H, Lu Y, Lin B, Chen J, Tang F, Huang G.The Effect of XPD/ERCC2 Polymorphisms on Gastric Cancer Risk among Different Ethnicities: A Systematic Review and Meta-Analysis, PLoS ONE 2012;7(9):e43431.
Karahalil B, Bohr VA, Wilson III DM. Impact of DNA polymorphisms in key DNA base excision repair proteins on cancer risk, Human and Experimental Toxicology 2012; 31(10):981–1005.
Wang J, Zhao Y, Jiang J, Gajalakshmi V, Kuriki K, Nakamura S et al. Polymorphisms in DNA repair genes XRCC1, XRCC3 and XPD, and colorectal cancer risk: a case–control study in an Indian population, J Cancer Res Clin Oncol 2010; 136:1517–1525.
López-Cima MF, González-Arriaga P, García-Castro L, Pascual T, Marrón MG, Puente XS et al. Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of Northern Spain, BMC Cancer 2007; 7:162-174.
Weimin G, Marjorie R, Shilong Z, Nukui T, Persad RA, Smith PJB et al. Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk, Oncol Rep 2010; 24(1):257–262.
Ben Salah G, Fendri-Kriaa N, Kamoun H, Kallabi F, Mkaouar-Rebai E, Fourati A et al. An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population. Mol Biol Rep 2012; 39:9639–9647.
Bau DT, Tsai MH, Huang CY, Lee CC, Tseng HC, Lo YL et al. Relationship between Polymorphisms of Nucleotide Excision Repair Genes and Oral Cancer Risk in Taiwan: Evidence for Modification of Smoking Habit, Chinese Journal of Physiology 2007; 50(6): 294-300.
Suparp K, Hutcha S, William WA, Takafumi I. Polymorphism in DNA repair genes and oral squamous cell carcinoma in Thailand. Int. J. Hyg. Environ.-Health 2006; 209:21–29.
Yunfei W, Margaret R, Spitz J et al. Nucleotide excision repair pathway genes and oral premalignant lesions. Clin Cancer Res 2007; 3753:13(12), 3753-58.

References

Parkin DM, Laara E, Muri CS. Estimates of the worldwide frequency of sixteen major cancers in 1980. Int J Cancer 1988;41(2):184-97.

Boring CC, Squries TS, Tong T, Montgomery S. Cancer statistics, 1994. CA Cancer J Clin 1994; 44 (1): 7-26.

Howell RE, Wright BA, Dewar R. Trends in the incidence of oral cancer in Nova Scotia from 1983 to 1997. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003; 95(2):205-12.

Engin K, Erisen L (2003) Head and Neck Cancer. Nobel Tıp Kitabevi, Ankara.

Ghafoor A, Jemal A, Cokkinides V, Cardinez C, Murray T, Samuels A et al. Cancer statistics for African Americans, CA Cancer J Clin 2002; 52(6):326-41.

WHO Global Oral Health Programme, The World Oral Health Report 2003, Genova, 2003.

Ord RA. Types of Oral Cancer. In: Ord RA, Blanchaert RH (eds) Oral Cancer The Dentist's Role in Diagnosis, Management, Rehabilitation, and Prevention. 1th edn. Quintessence Publishing Co Inc, Chicago, 2000, pp 65-77.

Karadeniz AN. Head and Neck and Tiroid Cancer. In: Topuz E, Aydıner A, Karadeniz AN (eds) Clinical Oncology, Tunç Matbaası, ć°stanbul, 2000, pp 161-200.

Koç C. (Eds). Head and Neck Diseas. 1th edn. Güneş Kitabevi, Ankara, 2004, pp 953-64.

Başerer N. Disease of Oral Cavity In: Engin K, Erişen L (eds). Baş-Boyun Kanserleri 1 th edn. Nobel Matbaacılık, Istanbul, 2003, pp 237-270.

Cawson RA, Binnie WH, Barrett AW, Wright JM. Oral Disease Clinical and Pathological Correlations. 3. ed. Mosby, Edinburgh 2001.

Rizzardi C, Frezzini C, Maglione M, Tireli G, Mauro M. A Look at the Biology of Spindle Cell Squamous Carcinoma of the Oral Cavity: Report of a Case. J Oral Maxillofac Surg 2003; 61:264-8.

Ellis GL, Corio RL. Spindle cell carcinoma of the oral cavity: A clinicopathologic assessment of fifty-nine cases. Oral Surg Oral Med Oral Pathol 1980; 50:528-34.

Epstein JB. Oral cancer In: Greennberg MS, Glick M. (eds) Burket's Oral Medicine Diagnosis and Treatment 10th ed. BC Decker Inc, Ontario, 2003, pp 194-234.

Neville BW, Damm MM, Allen CM, Bouquot JE. Oral and Maxillofacial Pathology. 1st ed. WB Saunders, Philadelphia, 1995, pp 259-321.

Cawson RA, Odell EW, Porter S. Cawson's Essentials of Oral Pathology and Oral Medicine. 7. ed. Churchill Livingstone, Edinburgh, 2002, pp 230-54.

Toida M, Shimokawa K, Makita H, Kato K, Kobayashi A, Kusunoki Y et al. Intraoral minor salivary gland tumors: a clinicopatho-logical study of 82 cases. Int J Oral Maxillofac Surg 2005; 34: 528-32.

Agius LM. Possible close analogy between HIV and EBV infection and, respectively, induced lymphomas. Med Hypotheses 2003; 60(6):874-9.

Serrano D, Carrión R, Balsalobre P, Miralles P, Berenguer J, Buño I et al. HIV-associated lymphoma succesfully treated with peripheral blood stem cell transplantation. Exp Hematol 2005; 33:487-94.

Gorsky M, Epstein JB. Head and neck and intra-oral soft tissue sarcomas. Oral Oncol 1998; 34:292-6.

Chigurupati R, Alfatooni A, Myall RWT, Hawkins D, Oda D . Orofacial rhabdomyosarcoma in neonates and young children: a review of literature and management of four cases. Oral Oncol 2002; 38:508-15.

Bras J, Batsakis JG, Lund MA. Rhabdomyosarcoma of the oral soft tissues. Oral Surg Oral Med Oral Pathol 1987; 64(5):585-96.

Santos DT, Cavalcanti MGP. Osteosarcoma of the temporomandibular joint: Report of two cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002; 94:641-7.

Sapp JP, Eversole LR, Wysocki GP. Contemporary Oral and Maxillofacial Pathology. 1st ed. Mosby St. Louis, 1997, pp 156-195.

Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb AL. Environmental and chemical carcinogenesis. Seminars in Cancer Biology 2004; 14:473-486.

Kokturk N, Kırısoglu CE, Ozturk C. Molecular biology of. Lung Disease, Solunum 2003; 5:127-138.

Ronen A, Glickman BW. Human DNA Repair Genes, Environmental and Molecular Mutagenesis 2001; 37:241-283.

Zhu ML, Wang M, Cao ZG, He J, Shi TY, Xia KQ et al. Association between the ERCC5 Asp1104His Polymorphism and Cancer Risk: A Meta-Analysis, PLoS ONE 2012; 7(7): e36293.

Blasiak J, Synowiec E, Salminen A, Kaarniranta K. Genetic Variability in DNA Repair Proteins in Age-Related Macular Degeneration, Int. J. Mol. Sci 2012; 13:13378-13397.

Xue H, Lu Y, Lin B, Chen J, Tang F, Huang G.The Effect of XPD/ERCC2 Polymorphisms on Gastric Cancer Risk among Different Ethnicities: A Systematic Review and Meta-Analysis, PLoS ONE 2012;7(9):e43431.

Karahalil B, Bohr VA, Wilson III DM. Impact of DNA polymorphisms in key DNA base excision repair proteins on cancer risk, Human and Experimental Toxicology 2012; 31(10):981–1005.

Wang J, Zhao Y, Jiang J, Gajalakshmi V, Kuriki K, Nakamura S et al. Polymorphisms in DNA repair genes XRCC1, XRCC3 and XPD, and colorectal cancer risk: a case–control study in an Indian population, J Cancer Res Clin Oncol 2010; 136:1517–1525.

López-Cima MF, González-Arriaga P, García-Castro L, Pascual T, Marrón MG, Puente XS et al. Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of Northern Spain, BMC Cancer 2007; 7:162-174.

Weimin G, Marjorie R, Shilong Z, Nukui T, Persad RA, Smith PJB et al. Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk, Oncol Rep 2010; 24(1):257–262.

Ben Salah G, Fendri-Kriaa N, Kamoun H, Kallabi F, Mkaouar-Rebai E, Fourati A et al. An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population. Mol Biol Rep 2012; 39:9639–9647.

Bau DT, Tsai MH, Huang CY, Lee CC, Tseng HC, Lo YL et al. Relationship between Polymorphisms of Nucleotide Excision Repair Genes and Oral Cancer Risk in Taiwan: Evidence for Modification of Smoking Habit, Chinese Journal of Physiology 2007; 50(6): 294-300.

Suparp K, Hutcha S, William WA, Takafumi I. Polymorphism in DNA repair genes and oral squamous cell carcinoma in Thailand. Int. J. Hyg. Environ.-Health 2006; 209:21–29.

Yunfei W, Margaret R, Spitz J et al. Nucleotide excision repair pathway genes and oral premalignant lesions. Clin Cancer Res 2007; 3753:13(12), 3753-58.