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Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

ABSTRACT: The objective of this study was to investigate the mutational profiles of cancers arising in different colon segments. To this aim, we have analyzed 37 colon cancer samples by use of the Ion AmpliSeq™ Comprehensive Cancer Panel. Overall, we have found 307 mutated genes, most of which already implicated in the development of colon cancer. Among these, 15 genes were mutated in tumors originating in all six colon segments and were defined "common genes" (i.e. APC, PIK3CA, TP53) whereas 13 genes were preferentially mutated in tumors originating only in specific colon segments and were defined "site-associated genes" (i.e. BLNK, PTPRD). In addition, the presence of mutations in 10 of the 307 identified mutated genes (NBN, SMUG1, ERBB2, PTPRT, EPHB1, ALK, PTPRD, AURKB, KDR and GPR124) were found to be of clinical relevance. Among clinically relevant genes, NBN and SMUG1 were identified as independent prognostic factors that predicted poor survival in colon cancer patients. In conclusion, the findings reported here indicate that tumors arising in different colon segments present differences in the type and/or frequency of genetic variants, with two of them being independent prognostic factors that predict poor survival in colon cancer patients.

SUBMITTER: Oliveira DM

PROVIDER: S-EPMC5963617 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oliveira Duarte Mendes DM Laudanna Carmelo C Migliozzi Simona S Zoppoli Pietro P Santamaria Gianluca G Grillone Katia K Elia Laura L Mignogna Chiara C Biamonte Flavia F Sacco Rosario R Corcione Francesco F Viglietto Giuseppe G Malanga Donatella D Rizzuto Antonia A

Oncotarget 20180508 35

The objective of this study was to investigate the mutational profiles of cancers arising in different colon segments. To this aim, we have analyzed 37 colon cancer samples by use of the Ion AmpliSeq™ Comprehensive Cancer Panel. Overall, we have found 307 mutated genes, most of which already implicated in the development of colon cancer. Among these, 15 genes were mutated in tumors originating in all six colon segments and were defined "common genes" (i.e. APC, PIK3CA, TP53) whereas 13 genes wer ...[more]

PMID: 29844865

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Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

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Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

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