Abstract 1903: Actionable mutational landscape in solid tumors: a case study of ovarian and colon cancer

Abstract Background: Solid tumors are abnormal tissue masses that can be benign or malignant. They are named after the type of cells that form them, and can be categorized by where they originate such as breast, colon, bladder, ovary, and lung. Methods: Genomic profiling was done with sequencing of FFPE tumor samples 40 using Genes2Me PanCancer assay with 681 genes and the target size of 1.7 Mb on Illumina platform. Bioinformatics analysis was performed using standard GATK.v4.1.2 somatic variant calling pipeline. Mutational plots were generated using MAFtools and inhouse python script for post data analysis. Results: The number of mutant allele frequency (MAF) of the most frequently mutated genes varied significantly across tumor types, with the highest MAF observed in this cancer type. Significantly mutated cancer-related genes in solid tumors found the most frequently altered genes to be TP53(45%), KRAS(18%), TERT(14%), CDKN2A(12%), PIK3CA(11%), APC(36%), EGFR(10%), ESR1(20%), KIT(9%), AR(64%), MYC(44%), FGFR1(21%), BRCA1(22%), BRCA2(63%), CCND1(46%) in colon and ovarian carcinoma. Tumormutational burden (TMB) varied significantly across tumor types, and patients with high MAF had a significantly higher TMB score with one of the investigated platforms. Conclusion: These findings describe the similarities and differences between mutational signature of different solid tumors from cancer patients, providing valuable information for personalized medicine and also an important implication for the selection of patients for clinical trials with molecularly targeted therapies. Citation Format: Amit Kumar, Samir Agarwal, Pankaj Khanna, Shobit Gupta, Rama Chandran, Ananth S. Bommakanti. Actionable mutational landscape in solid tumors: a case study of ovarian and colon cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 1903.

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Journal
Cancer Research
Published
2025-04-21
DOI
https://doi.org/10.1158/1538-7445.am2025-1903
Primary Topic
Cancer Genomics and Diagnostics
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article
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article

Abstract 1903: Actionable mutational landscape in solid tumors: a case study of ovarian and colon cancer

Samir Agarwal, Ananth Bommakanti, Shobit Gupta, R. Pratap Chandran et al.
Cancer Research
Cancer Genomics and Diagnostics
article

Abstract 1903: Actionable mutational landscape in solid tumors: a case study of ovarian and colon cancer

Samir Agarwal, Ananth Bommakanti, Shobit Gupta, R. Pratap Chandran, P. Khanna, Amit Kumar
article en

Abstract

Abstract Background: Solid tumors are abnormal tissue masses that can be benign or malignant. They are named after the type of cells that form them, and can be categorized by where they originate such as breast, colon, bladder, ovary, and lung. Methods: Genomic profiling was done with sequencing of FFPE tumor samples 40 using Genes2Me PanCancer assay with 681 genes and the target size of 1.7 Mb on Illumina platform. Bioinformatics analysis was performed using standard GATK.v4.1.2 somatic variant calling pipeline. Mutational plots were generated using MAFtools and inhouse python script for post data analysis. Results: The number of mutant allele frequency (MAF) of the most frequently mutated genes varied significantly across tumor types, with the highest MAF observed in this cancer type. Significantly mutated cancer-related genes in solid tumors found the most frequently altered genes to be TP53(45%), KRAS(18%), TERT(14%), CDKN2A(12%), PIK3CA(11%), APC(36%), EGFR(10%), ESR1(20%), KIT(9%), AR(64%), MYC(44%), FGFR1(21%), BRCA1(22%), BRCA2(63%), CCND1(46%) in colon and ovarian carcinoma. Tumormutational burden (TMB) varied significantly across tumor types, and patients with high MAF had a significantly higher TMB score with one of the investigated platforms. Conclusion: These findings describe the similarities and differences between mutational signature of different solid tumors from cancer patients, providing valuable information for personalized medicine and also an important implication for the selection of patients for clinical trials with molecularly targeted therapies. Citation Format: Amit Kumar, Samir Agarwal, Pankaj Khanna, Shobit Gupta, Rama Chandran, Ananth S. Bommakanti. Actionable mutational landscape in solid tumors: a case study of ovarian and colon cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 1903.

Cancer ResearchVol. 85(8_Supplement_1)
Army Hospital Research and Referral (IN)
Openalex Percentile: Top 90%
Cancer Genomics and Diagnostics
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