Pathology · Neoplasia (Classification, Carcinogenesis, Tumor Markers, Paraneoplastic)

Which of the following represents an epigenetic mechanism of carcinogenesis that silences tumor suppressor genes without altering the DNA sequence?

  • A Missense point mutation
  • B Frameshift mutation due to microsatellite instability
  • C Promoter CpG island hypermethylation
  • D Gene amplification
Correct answer: C. Promoter CpG island hypermethylation

Explanation

Promoter CpG island hypermethylation is a classic epigenetic mechanism that silences tumor suppressor genes (e.g., CDKN2A/p16, MLH1, BRCA1) without changing the DNA sequence. This heritable modification recruits methyl-binding proteins that condense chromatin and prevent transcription. Missense mutations, frameshift mutations, and gene amplification all alter the DNA sequence.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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