R248W Mutations in p53 Gene are Rare Among Indian Patients with Head-and-Neck Cancer

Abstract

Aim

Cancer is one of the curses to humankind, decades of research in eradicating the disease from the society is proven difficult. Close interaction between clinicians and scientists helps us to translate clinical observations into molecular mechanism of the disease. The Cancer Genome Atlas data suggest that genetic alterations in p53 gene play a crucial role in head-and-neck squamous cell carcinoma (HNSCC) tumorigenesis. Understanding p53 aberrations and their impact on other cellular activities can help with the design of new, more effective therapeutic strategy that target p53 mutation-bearing HNSCC, thereby producing a personalized medicine approach for the disease.

Materials and Methods

In an effort to identify the role of R248W mutation of p53 gene in HNSCC patients of Indian origin, tumor samples were collected from 55 patients (n = 55), and polymerase chain reaction–restriction fragment length polymorphism technique was used to screen for the mutation using genomic DNA isolated from the tumors.

Results

The results reveal that except for one patient (heterozygous), all the patients were negative for the mutation.

Conclusion

These results suggest that p53 R248W mutations are less prevalent in HNSCC Indian patients.

Keywords

Head-and-neck cancer - mutation - p53 - polymerase chain reaction–restriction fragment length polymorphism

Publication History

Received: 13 December 2019

Accepted: 29 June 2020

Article published online:
17 May 2021

• References

• 1 Kamangar F, Dores GM, Anderson WF. Patterns of cancer incidence, mortality, and prevalence across five continents: Defining priorities to reduce cancer disparities in different geographic regions of the world. J Clin Oncol 2006; 24: 2137-50
• 2 Rebecca LS, Kimberly DM, Ahmedin J. Cancer Statistics. Ca Cancer J Clin 2017; 70: 7-30
• 3 Ge Z, Zhiyi L, Jeffrey NM. TP53 mutations in head and neck squamous cell carcinoma and their impact on disease progression and treatment response. J Cell Biochem 2016; 117: 2682-92
• 4 David PL, Sam B. p53: Oncogene or anti-oncogene. Genes Develop 1990; 4: 1-8
• 5 Levine AJ, Perry ME, Chang A, Silver A, Dittmer D, Wu M, Welsh D. The 1993 walter hubert lecture: The role of the p53 tumour-suppressor gene in tumorigenesis. Br J Cancer 1994; 69: 409-16
• 6 Hollstein M, Sidransky D, Vogelstein B, Harris CC. p53 mutations in human cancers. Science 1991; 253: 49-53
• 7 Field JK, Pavelic ZP, Spandidos DA, Stambrook PJ, Jones AS, Gluckman JL. The role of the p53 tumor suppressor gene in squamous cell carcinoma of the head and neck. Arch Otolaryngol Head Neck Surg 1993; 119: 1118-22
• 8 Olivier M, Hollstein M, Hainaut P. TP53 mutations in human cancers: Origins, consequences, and clinical use. Cold Spring Harb Perspect Biol 2010; 2: a001008
• 9 Cancer Genome Atlas Network. Comprehensive genomic characterization of head and neck squamous cell carcinomas. Nature 2015; 517: 576-82
• 10 Caamano J, Zhang SY, Rosvold EA, Bauer B, Klein-Szanto AJP. p53 Alterations in human squamous cell carcinomas and carcinoma cell lines. Am J Pathol 1993; 142: 1131-9
• 11 Liming O, Chongtao G, Haizhen W, Suxia L, Huizhan Z. PCR-RFLP to detect codon 248 mutation in exon 7 of p53 tumor suppressor gene. Biochem Molecular Biol Educ 2009; 37: 106-9
• 12 Abarna R, Dutta D, Sneha P, George P, Anbalagan M. Identification of novel heterozygous Apex 1 gene variant (Glu87Gln) in patients with head and neck cancer of Indian origin. J Cell Biochem 2018; 119: 8851-61
• 13 Debnarayan D, Rajadurai A, Mehatre S, Kannan S, Sriprakash D, Rayappa C. 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 2018; 20: 1-8
• 14 Ashna G, Moorthy A. High incidence of BRAF V600 mutation in Indian patients with head and neck cancer. Front Biosci 2018; 10: 520-7
• 15 Cara LB, Honnavara NA. p53 and the pathogenesis of skin cancer. Toxicol Appl Pharmacol 2007; 224: 241-8
• 16 Shi Q, Xiao K, Wei W, Zhang BY, Chen C, Xu Y. et al. Associations of TP53 mutations, codon 72 polymorphism and human papillomavirus in head and neck squamous cell carcinoma patients. Oncol Rep 2013; 30: 2811-9