Evaluation of the spectrum of genetic variations in young cancer patients presenting to the tertiary cancer centre

Abstract

Background: Aim of the study was to evaluate the spectrum of genetic variations in young cancer patients presenting to the tertiary cancer center Methods: All newly diagnosed patients with cancer presenting to medical oncology OPD at continental hospitals between November 2021 till July 2023 were analyzed. Multigene panel testing (56 genes) by next-generation sequencing was performed for all patients. Demographics and clinical characters were represented using descriptive statistics. The Chi-square test was used to compare the cohorts of Mutations vs. non mutations. Results: A total of 130 cancer patients were screened and 70 were recruited in the study, which had complete set of clinical details available. Median age of Cohort is 41.9±6.6 years and for females it is 43.6±6.8 years and males it is 40.5±7.3, with males presenting at approximately 3 years earlier than females (p=0.12), which is not statistically significant. Male female ratio is 1.2:1, which is much less compared to Globocon statistics of cancer in India. A total of 47% (33/70) subjects had some mutation and approximately 16% (11/70) had variance of unknown significance and 32% (22/70) patients had pathogenic variants. The commonest cancer is breast followed by colon and prostate. Conclusions: Younger cancer patients presenting with atypical symptoms harbor more frequent germ line mutations, than expected. In view of the low cost, standardized and wide availability of the germ line analysis, it’s preferred to offer the test, wherever clinically relevant. This can help for better education, screening and early intervention, that ultimately help improve the cancer statistics in healthier directions.