DESCRIPTIVE STUDY ON GENETIC MUTATIONS AND THEIR ASSOCIATION WITH CANCER DEVELOPMENT AMONG PATIENTS IN TERTIARY CARE HOSPITALS

Abstract

Background: Cancer is a genetically heterogeneous disease, with various mutations contributing to tumor initiation and progression. Understanding the distribution of genetic mutations across different cancer types can enhance diagnosis and treatment personalization, especially in underrepresented regions like South Punjab.

Objective: To describe patterns of genetic mutations and evaluate their association with different cancer types among affected patients in tertiary care hospitals.

Methods: A descriptive, observational study was conducted over eight months in tertiary care hospitals across South Punjab. A total of 384 adult cancer patients who underwent molecular genetic testing were included. Patient records were reviewed to extract demographic, clinical, and genetic data. Mutation types, frequencies, and their associations with specific cancers were analyzed using descriptive statistics and chi-square tests in SPSS version 26, with a significance threshold of p < 0.05.

Results: The mean age of patients was 52.3 ± 11.8 years, with a slight male predominance (54.2%). Breast cancer was the most common malignancy (26.6%), followed by lung (20.3%) and colorectal cancers (16.1%). TP53 mutations were the most frequent (25.0%), followed by BRCA1 (14.1%), BRCA2 (9.9%), KRAS (9.4%), and EGFR (8.3%). TP53 was significantly associated with breast cancer, while BRCA1/2 were prevalent in breast and ovarian cancers. KRAS and EGFR were primarily linked to lung and colorectal cancers. Statistically significant associations were observed between specific gene mutations and cancer types.

Conclusion: This study highlights distinct genetic mutation profiles among cancer patients in South Punjab, reinforcing the value of molecular testing in regional oncology practice. The findings support efforts to personalize cancer care based on genomic insights.