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ATG12 – Colorectal Cancer

A 2025 exon sequencing study in 23 colorectal cancer patients receiving neoadjuvant radiotherapy detected no coding or splice site variants in ATG12, indicating absence of germline mutations contributing to colorectal cancer susceptibility (PMID:40123635). Functional assays demonstrate that Atg12 is essential for autophagosome formation via ubiquitin-like conjugation to Atg5, but no direct experimental or clinical data link ATG12 dysfunction to colorectal tumorigenesis (PMID:16874032). Collectively, current evidence supports only a limited role for ATG12 in colorectal cancer pathogenesis.

References

  • Indian journal of clinical biochemistry • 2025 • Exon Sequence Analysis of the ATG5, ATG12, ATG9B Genes in Colorectal Cancer Patients During Radiotherapy. PMID:40123635
  • Autophagy • 2005 • Structure-function relationship of Atg12, a ubiquitin-like modifier essential for autophagy. PMID:16874032

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

No ATG12 variants detected in 23 colorectal cancer patients (PMID:40123635); no segregation or recurrent variants.

Genetic Evidence

Limited

Zero probands with ATG12 coding or splice variants in colorectal cancer cohort (PMID:40123635).

Functional Evidence

Supporting

Biochemical studies show Atg12 is essential for autophagy but lacking colorectal cancer–specific functional data (PMID:16874032).