Research Papers:

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

Duarte Mendes Oliveira, Carmelo Laudanna, Simona Migliozzi, Pietro Zoppoli, Gianluca Santamaria, Katia Grillone, Laura Elia, Chiara Mignogna, Flavia Biamonte, Rosario Sacco, Francesco Corcione, Giuseppe Viglietto _, Donatella Malanga and Antonia Rizzuto

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Oncotarget. 2018; 9:23960-23974. https://doi.org/10.18632/oncotarget.25251

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Duarte Mendes Oliveira1,*, Carmelo Laudanna1,*, Simona Migliozzi1, Pietro Zoppoli1, Gianluca Santamaria1, Katia Grillone1, Laura Elia2, Chiara Mignogna3, Flavia Biamonte1, Rosario Sacco2, Francesco Corcione4, Giuseppe Viglietto1, Donatella Malanga1 and Antonia Rizzuto2

1Department of Experimental and Clinical Medicine, University Magna Graecia, Catanzaro, Italy

2Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy

3Department of Health Sciences, University Magna Graecia, Catanzaro, Italy

4UOC Chirurgia Generale, Azienda Ospedaliera dei Colli, Napoli, Italy

*These authors have contributed equally to this work

Correspondence to:

Giuseppe Viglietto, email: [email protected]

Donatella Malanga, email: [email protected]

Keywords: colon cancer; ion torrent; colon segments

Received: March 29, 2017    Accepted: April 06, 2018    Published: May 08, 2018


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.

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