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

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 illus...

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Bibliographic Details
Published in:International journal of molecular sciences 2024-03, Vol.25 (5), p.2716
Main Authors: Di Maggio, Federica, Boccia, Giuseppe, Nunziato, Marcella, Filotico, Marcello, Montesarchio, Vincenzo, D'Armiento, Maria, Corcione, Francesco, Salvatore, Francesco
Format: Article
Language:English
Subjects:
Age
Case Report
colon cancer
Colonic Neoplasms - genetics
Colorectal cancer
Colorectal Neoplasms - pathology
DNA
DNA Helicases - genetics
DNA methylation
early cases of EOCRC
Female
Genes
Genetic counseling
Genetic Predisposition to Disease
Genetic Testing
Genomics
Humans
Middle Aged
multi-gene oncology panel
NGS
Nuclear Proteins - genetics
Patients
Risk factors
SMARCA4 pathogenic mutation
Transcription Factors - genetics
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Summary: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 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.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms25052716