A Novel DNA Variant in SMARCA4 Gene Found in a Patient Affected by Early Onset Colon Cancer

Sep 21, 2026

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Colorectal cancer ranks as a leading cause of cancer death worldwide, with increasing numbers of cases occurring in patients under 50 years, termed early onset colorectal cancer (EOCRC). This report presents a clinical case of a woman with EOCRC, highlighting the value of genetic predisposition testing in tumor patients. A combined multi-technology molecular and cellular approach identified a novel pathogenic SMARCA4 variant, further supported by patient-derived organoid stabilization and confirmation. The findings emphasize the need for including patients below 50 in targeted screening programs with genetic testing.

LanguageEnglish

CategoryHealthcare

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Pages12

Reading Time30 min

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Abstract

Keywords

1. Introduction

Early onset colorectal cancer trends

Case Report A Novel DNA Variant in SMARCA4 Gene Found in a Patient Affected by Early Onset Colon Cancer Federica Di Maggio 1,2,†, Giuseppe Boccia 3,†, Marcella Nunziato 1,2, Marcello Filotico 3, Vincenzo Montesarchio 4, Maria D’Armiento 5, Francesco Corcione 3,* and Francesco Salvatore 1,2, * Citation: Di Maggio, F.; Boccia, G.; Nunziato, M.; Filotico, M.; Montesarchio, V.; D’Armiento, M.; Corcione, F.; Salvatore, F. A Novel DNA Variant in SMARCA4 Gene Found in a Patient Affected by Early Onset Colon Cancer. Int. J. Mol. Sci. 2024, 25, 2716. [https://doi.org/](https://doi.org/)[ ](https://doi.org/)[10.3390/ijms25052716](10.3390/ijms25052716) Academic Editor: Ehsan Gharib Received: 12 February 2024 Revised: 21 February 2024 Accepted: 24 February 2024 Published: 27 February 2024 Copyright: © 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) . 1 CEINGE-Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy; [dimaggio@ceinge.unina.it](dimaggio@ceinge.unina.it) (F.D.M.); [nunziato@ceinge.unina.it](nunziato@ceinge.unina.it) (M.N.) 2 Department of Molecular Medicine and Medical Biotechnologies, University of Naples “Federico II”, 80131 Naples, Italy 3 Department of Public Health, University of Naples “Federico II”, 80131 Naples, Italy; [giuseppe.boccia@unina.it](giuseppe.boccia@unina.it) (G.B.); [dottmarcellofilotico@gmail.com](dottmarcellofilotico@gmail.com) (M.F.) 4 Division of Medical Oncology, AORN dei Colli-Monaldi Hospital, 80131 Naples, Italy; [vincenzo.montesarchio@ospedalideicolli.it](vincenzo.montesarchio@ospedalideicolli.it) 5 Pathology Unit, Department of Public Health, University of Naples “Federico II”, 80131 Naples, Italy; [maria.darmiento@unina.it](maria.darmiento@unina.it) * Correspondence: francesco.corcione@clinicamediterranea.it (F.C.); salvator@unina.it (F.S.)† These authors contributed equally to this work. Abstract: Colorectal cancer is the third leading cause of death from neoplasia worldwide. Thanks to new screening programs, we are now seeing an increase in Early Onset of ColoRectal Cancer (EOCRC) in patients below the age of 50 . Herein, we report a clinical case of a woman affected by EOCRC. This case illustrates the importance of genetic predisposition testing also in tumor patients. Indeed, for our patient, we used a combined approach of multiple molecular and cellular biology technologies that revealed the presence of an interesting novel variant in the SMARCA4 gene. The latter gene is implicated in damage repair processes and related, if mutated, to the onset of various tumor types. In addition, we stabilized Patient-Derived Organoids from the tumor tissue of the same patient and the result confirmed the presence of this novel pathogenic variant that has never been found before even in early onset cancer. In conclusion, with this clinical case, we want to underscore the importance of including patients even those below the age of 50 years in appropriate screening programs which should also include genetic tests for predisposition to early onset cancers. Keywords: early cases of EOCRC; colon cancer; multi-gene oncology panel; NGS; SMARCA4 pathogenic mutation 1. Introduction Among the common malignancies, colorectal cancer (CRC) is the third leading cause of death in both men and women worldwide [1] . The incidence of CRC has increased in low-and middle-income countries throughout the past few decades, whereas its incidence has been steady in high-income countries [2] . Thanks to the implementation of screening programs that are progressively more registered in industrialized countries, it is becoming increasingly possible to detect colon cancer at early stages [3] . Fu

FAQs

What is the main focus of this case report?

The report describes a clinical case of early onset colorectal cancer and identifies a novel pathogenic DNA variant in the SMARCA4 gene.

How was the novel SMARCA4 variant detected and validated?

The study used a combined approach of molecular and cellular biology technologies, and then stabilized patient-derived organoids from the tumor tissue to confirm the same pathogenic variant.

Why is genetic testing emphasized for patients under 50?

The document underscores that including patients below 50 in screening programs should also involve genetic tests to assess predisposition to early onset cancers.

Sep 21, 2026

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