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

A 35-year-old woman with a strong family history of breast and ovarian cancer undergoes genetic testing. She is found to have a germline loss-of-function mutation in BRCA1. BRCA1 is best classified as which type of cancer susceptibility gene?

  • A Gatekeeper gene
  • B Caretaker gene
  • C Oncogene
  • D Driver gene
Correct answer: B. Caretaker gene

Explanation

BRCA1 is a caretaker gene involved in DNA double-strand break repair via homologous recombination. Loss of caretaker function leads to genomic instability and accumulation of mutations in other genes. Gatekeeper genes (like APC or RB) directly control cell proliferation or apoptosis. Oncogenes are gain-of-function mutations in proto-oncogenes. Driver gene is a broader functional term, not the specific classification used here.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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