TP53 Mutations R175H and R249S Are Rare in Indian Head and Neck Cancer Patients

Abstract

Introduction Mutations in tumor suppressor gene TP53 are considered as one of the main causes for different types of cancer. Head and neck squamous cell carcinoma (HNSCC) is one of the common cancers found in India. Among the several mutations reported in the TP53 gene, R175H and R249S are linked to cause of several cancers. This work was carried out to study the prevalence of R175H and R249S mutations in HNSCC patients of Indian origin.

Method Tumor samples were collected from 50 HNSCC patients and good quality genomic deoxyribonucleic acid (DNA) were obtained from 41 samples. Using this genomic DNA, polymerase chain reaction-linked restriction fragment length polymorphism technique was used to screen both the mutations in the TP53 gene of the patients.

Result The results revealed that out of the 41 samples analyzed, all the samples were negative for the mutations both in homozygous and heterozygous condition. This experiment was repeated three times, and the representative image is shown.

Conclusion This study suggests that mutations in codon 175 (R175H) and 249 (R249S) are rare in HNSCC patients of Indian origin.

Keywords

head and neck cancer - mutations - TP53 - polymerase chain reaction coupled restriction fragment length polymorphism - R175H - R249S

Note

The manuscript has been read and approved by all authors, and the requirement of authorship has been met by each author. Each author believes that the manuscript represent honest work.

Publikationsverlauf

Artikel online veröffentlicht:
22. September 2023

• References

• 1 Zhou G, Liu Z, Myers JN. TP53 mutations in head and neck squamous cell carcinoma and their impact on disease progression and treatment response. J Cell Biochem 2016; 117 (12) 2682-2692
• 2 Harms KL, Chen X. The functional domains in p53 family proteins exhibit both common and distinct properties. Cell Death Differ 2006; 13 (06) 890-897
• 3 Higginson J, Muir CS, Munoz N. Human cancer. Eur J Cancer Prev 1993; 2 (03) 285
• 4 Siegel RL, Miller KD, Jemal A. Cancer statistics, 2020. CA Cancer J Clin 2020; 70 (01) 7-30
• 5 Chiang YT, Chien YC, Lin YH, Wu HH, Lee DF, Yu YL. The function of the mutant p53-r175h in cancer. Cancers (Basel) 2021; 13 (16) 1-18
• 6 Mohamadkhani A, Naderi E, Sharafkhah M, Fazli HR, Moradzadeh M, Pourshams A. Detection of TP53 R249 mutation in Iranian patients with pancreatic cancer. J Oncol 2013; 2013: 738915
• 7 Olivier M, Hollstein M, Hainaut P. TP53 mutations in human cancers: origins, consequences, and clinical use. Cold Spring Harb Perspect Biol 2010; 2 (01) a001008
• 8 Leroy B, Anderson M, Soussi T. TP53 mutations in human cancer: database reassessment and prospects for the next decade. Hum Mutat 2014; 35 (06) 672-688
• 9 Vora HH, Mehta SV, Shukla SN, Shah PM. No mutation detected in five hot spot codons of the TP53 gene by restriction site mutation analysis in patients with carcinoma of the tongue. Int J Biol Markers 2010; 25 (01) 46-51
• 10 Field J, Malliri A, Jones A, Spandidos D. Mutations in the P53 gene at codon 249 are rare in squamous-cell carcinoma of the head and neck. Int J Oncol 1992; 1 (03) 253-256
• 11 Kirk GD, Lesi OA, Mendy M. et al. 249(ser) TP53 mutation in plasma DNA, hepatitis B viral infection, and risk of hepatocellular carcinoma. Oncogene 2005; 24 (38) 5858-5867
• 12 Nigam P, Misra U, Negi TS, Mittal B, Choudhuri G. Alterations of p53 gene in gallbladder cancer patients of North India. Trop Gastroenterol 2010; 31 (02) 96-100
• 13 Gauthaman A, Moorthy A. Prevalence of K-ras codon 12 mutations in Indian patients with head and neck cancer. Indian J Clin Biochem 2021; 36 (03) 370-374
• 14 Gauthaman A, Moorthy A. R248W mutations in p53 gene are rare among Indian patients with head-and-neck cancer. Indian J Med Paediatr Oncol 2020; 41 (04) 519-522
• 15 Dutta D, Abarna R, Shubham M. et al. Effect of Arg399Gln single-nucleotide polymorphism in XRCC1 gene on survival rate of Indian squamous cell head-and-neck cancer patients. J Cancer Res Ther 2020; 16 (03) 551-558
• 16 Gauthaman A, Moorthy A. High incidence of BRAF V600 mutation in Indian patients with head and neck cancer. Front Biosci (Elite Ed) 2018; 10 (03) 520-527
• 17 Mineta H, Borg A, Dictor M, Wahlberg P, Akervall J, Wennerberg J. p53 mutation, but not p53 overexpression, correlates with survival in head and neck squamous cell carcinoma. Br J Cancer 1998; 78 (08) 1084-1090
• 18 Xu J, Gimenez-Conti IB, Cunningham JE. et al. Alterations of p53, cyclin D1, Rb, and H-ras in human oral carcinomas related to tobacco use. Cancer 1998; 83 (02) 204-212
• 19 Rogha M, Berjis N, Lajevardi SM, Alamdaran M, Hashemi SM. Identification of R249 mutation in P53 gene in tumoral tissue of tongue cancer. Int J Prev Med 2019; 10: 129
• 20 Wong YK, Liu TY, Chang KW. et al. p53 alterations in betel quid- and tobacco-associated oral squamous cell carcinomas from Taiwan. J Oral Pathol Med 1998; 27 (06) 243-248
• 21 Saranath D, Tandle AT, Teni TR. et al. P53 inactivation in chewing tobacco-induced oral cancers and leukoplakias from India. Oral Oncol 1999; 35 (03) 242-250