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

Int J Mol Sci. 2024 Feb 27;25(5):2716. doi: 10.3390/ijms25052716.


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: NGS; SMARCA4 pathogenic mutation; colon cancer; early cases of EOCRC; multi-gene oncology panel.

Publication types

  • Case Reports

MeSH terms

  • Colonic Neoplasms* / genetics
  • Colorectal Neoplasms* / pathology
  • DNA
  • DNA Helicases / genetics
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Middle Aged
  • Nuclear Proteins / genetics
  • Transcription Factors / genetics


  • DNA
  • SMARCA4 protein, human
  • DNA Helicases
  • Nuclear Proteins
  • Transcription Factors