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

Anuradha Vutukuru; A. V. S. Suresh; Rakesh Sharma; Suragani Nageshwar Rao; K. B. Mithila; Vijaya Sreedhar; Sailaja V.

doi:10.18203/2394-6040.ijcmph20232841

Authors

Anuradha Vutukuru Department of Pathology, Bhaskar Medical College, Hyderabad, Telangana, India
A. V. S. Suresh Department of Medical Oncology, Continental Hospitals, Hyderabad, Telangana, India
Rakesh Sharma National Board of Examinations-Medical Sciences, Delhi, India
Suragani Nageshwar Rao Department of Pathology, Bhaskar Medical College, Hyderabad, Telangana, India
K. B. Mithila Department of Pathology, Bhaskar Medical College, Hyderabad, Telangana, India
Vijaya Sreedhar Department of Pathology, Bhaskar Medical College, Hyderabad, Telangana, India
Sailaja V. Department of Pathology, Bhaskar Medical College, Hyderabad, Telangana, India

DOI:

https://doi.org/10.18203/2394-6040.ijcmph20232841

Keywords:

Germline, Cancer, Screening, Breast, Ovary

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.

Metrics

Metrics Loading ...

References

Rahner N, Steinke V. Hereditary cancer syndromes. Dtsch Arztebl Int. 2008;105(41):706-14.

Starting at Rs 3,000, genetic testing gains popularity in India. Business Today. 2020. Available at: https://www.businesstoday.in/industry/pharma/story/starting-at-rs-3000-genetic-testing-gains-popularity-in-india-263119-2020-07-04. Accessed on 12 August, 2023.

Ward M, Elder B, Habtemariam M. Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program. J Adv Pract Oncol. 2021;12(7):693-701.

Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S et al. NCCN guidelines insights: Genetic/ familial high-risk assessment: Breast and ovarian, version 2.2017. J Natl Compr Cancer Netw. 2017;15:9-20.

Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68(6):394-424.

Mittal A, Deo SVS, Gogia A, Batra A, Kumar A, Bhoriwal S et al. Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center. Ann Surg Oncol. 2022;29(2):1423-32.

Pemmasani SK, Raman R, Mohapatra R, Vidyasagar M, Anuradha A. A Review on the Challenges in Indian Genomics Research for Variant. Identiﬁcation and Interpretation. Froniers Genetics. 2020;11:753.

Koppiker CB. Germline mutational profiling in Indian TNBCs. Cancer Res. 2022;82(4):37-8.

Basak J, Chakraborty A, Mukhopadhyay A. 36P BRCA1 germline mutation analysis among eastern Indian women: Identification of three novel mutations and high-frequency occurrence of 5382insC mutation. Annals of Oncol. 2015;26(9):IX8.

Soumittra N, Meenakumari B, Parija T, Sridevi V, Nancy KN, Swaminathan R et al. Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. Hered Cancer Clin Pract. 2009;7(1):13.

Gupta S, Rajappa S, Advani S, Agarwal A, Aggarwal S, Goswami C et al. Prevalence of BRCA1 and BRCA2 mutations among patients with ovarian, primary peritoneal, and fallopian tube cancer in India: A multicenter cross-sectional study. JCO Global Oncol. 2021;7:849-61.

Ghazal T, Sameer R, Kumar DS, Sindhu C, Rohit RL, Adarsh B et al. Lessons learnt from the clinico-genomic profiling of families with Li Fraumeni syndrome at a tertiary care centre in North India. Ecancermedicalscience. 2023;17:1550.