FANCF

Overview

FANCF (Fanconi Anemia Complementation Group F) encodes a core component of the Fanconi anemia (FA) DNA repair pathway, which resolves DNA interstrand crosslinks. Germline FANCF pathogenic variants predispose to Fanconi anemia and may increase cancer risk. Somatic loss of FA pathway genes impairs DNA repair and promotes genomic instability.

Alterations observed in the corpus

• Germline FANCF pathogenic variants detected in 3 patients among a WES/WGS cohort of anaplastic thyroid carcinoma (ATC) as cancer predisposition gene alterations PMID:38412093.
• Fanconi-anaemia pathway lesion enriched in high-CNV PDAC clusters; nominates PARP inhibitor and cross-linking agent therapy PMID:25855536
• FANCF is part of the FA gene classifier used to identify mCRPC patients with DNA-repair defects; homozygous deleterious FANCF events are associated with significantly longer time on carboplatin chemotherapy (log-rank P = 0.02) PMID:26928463

Cancer types (linked)

• THAP — germline FANCF variants identified in 3 patients in a genomic study of ATC PMID:38412093.

Co-occurrence and mutual exclusivity

• Not reported in the corpus.

Therapeutic relevance

• Germline alterations in BRCA1, BRCA2, and ATM at both SNV and CNA levels in ATC rationalize investigation of PARP inhibitors; FANCF as a Fanconi anemia pathway gene may be relevant in this context PMID:38412093.

Open questions

• Whether germline FANCF pathogenic variants drive ATC development or represent incidental findings in an older, cancer-prone population remains unresolved PMID:38412093.

Sources

• PMID:38412093

• PMID:25855536

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