Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors ( <scp>GISTs</scp> ): In Silico Analysis and Classification of Rare <scp> <i>KIT</i> </scp> Exon 11 Mutations

Our findings highlight the clinical relevance of integrating NGS into routine GIST management, particularly for the identification and interpretation of rare genetic variants. The study underscores the importance of data sharing and collective variant annotation to support accurate molecular classification, prognostic assessment, and therapeutic decision-making for individual patients.

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Publication Details

Journal
Cancer Medicine
Published
2025-12-01
DOI
https://doi.org/10.1002/cam4.71430
Primary Topic
Gastrointestinal Tumor Research and Treatment
Type
article
Field-Weighted Citation Impact
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article

Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors ( GISTs ): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations

Paola Parrella, Antonio Petracca, Barbara Pasculli, Michelina Rendina et al.
Cancer Medicine
Gastrointestinal Tumor Research and Treatment
article

Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors ( GISTs ): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations

Paola Parrella, Antonio Petracca, Barbara Pasculli, Michelina Rendina, Bartolomeo Augello, Paola Parente, Michelina Coco, Teresa Balsamo, Paolo Graziano, Evaristo Maiello, Maria Grazia Rodriquenz, Tommaso Mazza, André R. Troiano, Francesco Petrizzelli, Magda Zanelli
article en

Abstract

Our findings highlight the clinical relevance of integrating NGS into routine GIST management, particularly for the identification and interpretation of rare genetic variants. The study underscores the importance of data sharing and collective variant annotation to support accurate molecular classification, prognostic assessment, and therapeutic decision-making for individual patients.

Cancer MedicineVol. 14(23)
Casa Sollievo della Sofferenza (IT), Agostino Gemelli University Polyclinic (IT), Azienda Sanitaria Unità Locale di Reggio Emilia (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Sapienza University of Rome (IT)
Openalex Percentile: Top 46%
Gastrointestinal Tumor Research and Treatment
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Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors ( <scp>GISTs</scp> ): In Silico Analysis and Classification of Rare <scp> <i>KIT</i> </scp> Exon 11 Mutations — Paola Parrella, Antonio Petracca, et al. · Cancer Medicine (2025) | TGRS Research Map | TGRS