Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2026 – Comprehensive All-in-One Resource for Exam Excellence!

The gene specifically associated with Fanconi Anemia that impacts susceptibility to malignancy is BRCA2. Fanconi Anemia is a genetic disorder characterized by increased susceptibility to cancers, particularly acute myeloid leukemia and squamous cell carcinomas. In individuals with Fanconi Anemia, mutations in the BRCA2 gene disrupt the normal DNA repair mechanisms, which are crucial for maintaining genomic stability.

BRCA2 is involved in homologous recombination, a key process for repairing double-strand breaks in DNA. When BRCA2 function is compromised due to mutations, the repair of DNA is significantly impaired, leading to genomic instability, which in turn heightens the risk of developing malignancies. Understanding the role of BRCA2 in the context of Fanconi Anemia provides insights into the pathophysiology of the disease and underscores the importance of genetic screening and counseling for affected families.