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.

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

“…Our laboratory has been interested in the identification of mutations in various genes of HNSCC patients of Indian origin. [13][14][15][16] Since the TP53 gene is one of the most commonly mutated genes in cancer, this study was directed to screen for commonly occurring mutations in the HNSCC patients of Indian origin. In relation to this, our previous study revealed that one of the common mutations in the TP53 gene, R248W, is rare in these patients.…”

Prevalence and effect of PIK3CA H1047R somatic mutation among Indian head and neck cancer patients

“…DNA was extracted from the 48 tumour samples by the High Salt Method ( Gauthaman & Moorthy, 2020 ) . In brief, the tumour tissue sample were digested in a microfuge tube containing 1 ml of TNES buffer with proteinase-k, for overnight at 45° C. The genomic DNA was ethanol precipitated in presence of NaCl.…”