FANCF

Description

The FANCF gene provides instructions for making a protein that plays a critical role in DNA repair. This protein, known as FANCI, is part of a complex cellular machinery called the Fanconi anemia (FA) pathway. The FA pathway is essential for repairing damaged DNA, particularly double-strand breaks, which are highly dangerous and can lead to cell death or uncontrolled growth. When FANCF malfunctions, the FA pathway is disrupted, leading to a buildup of DNA damage and an increased risk of cancer.

Associated Diseases

• Fanconi anemia (FA)
• Breast cancer
• Acute myeloid leukemia (AML)
• Myelodysplastic syndromes (MDS)
• Head and neck squamous cell carcinoma (HNSCC)
• Ovarian cancer

Did you know?

Mutations in FANCF are responsible for about 10% of all Fanconi anemia cases.