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Gene Symbol FANCA
Synonyms FA | FA-H | FA1 | FAA | FACA | FAH | FANCH
Gene Description FANCA, FA complementation group A, is a member of the Fanconi anemia (FA) nuclear complex, which plays a role in DNA repair (PMID: 11673408, PMID: 12509764, PMID: 30057198), and is required for nuclear localization of the FA core complex (PMID: 32002546). Germline FANCA mutations are associated with Fanconi anemia, which involves predisposition to various cancers (PMID: 12509764, PMID: 32235514, PMID: 29098742), including acute myeloid leukemia (PMID: 25455269) and ovarian high-grade serous carcinoma (PMID: 32019284), and loss of FANCA has been reported in prostate cancer (PMID: 31931827).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
2175 16 16q24.3 NM_000135 Tumor suppressor (PMID: 30606230)

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FANCA S1088F Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, overexpression of FANCA S1088F in FANCA-null cells derived from Fanconi anemia patients resulted in increased sensitivity to Platinol (cisplatin) compared to wild-type Fanca expression in culture (PMID: 28864460). 28864460
FANCA S1088F prostate cancer predicted - sensitive Olaparib Preclinical - Pdx Actionable In a preclinical study, overexpression of FANCA S1088F in FANCA-null cells derived from Fanconi anemia patients resulted in increased sensitivity to Lynparza (olaparib) in culture, and a patient-derived xenograft (PDX) model of prostate cancer harboring germline FANCA S1088F demonstrated enhanced sensitivity to Lynparza (olaparib) treatment (PMID: 28864460). 28864460
FANCA inact mut prostate cancer predicted - sensitive Rucaparib Case Reports/Case Series Actionable In a Phase II trial, 1 of 4 patients with metastatic castrate-resistant prostate cancer harboring deleterious FANCA alterations demonstrated a PSA response and complete radiographic response after treatment with Rubraca (rucaparib), which were ongoing at the time of visit cutoff (PMID: 32086346; NCT02952534). 32086346
FANCA inact mut prostate cancer predicted - sensitive Abiraterone + Niraparib + Prednisone Phase III Actionable In a Phase III trial (MAGNITUDE), Zejula (niraparib) in combination with Zytiga (abiraterone) and Adasone (prednisone) (AAP) improved radiographic progression-free survival (HR 0.59) compared to placebo and AAP in patients with metastatic castration-resistant prostate cancer harboring inactivating mutations in the homologous recombination repair (HRR)-Fanconi pathway genes including BRIP1, FANCA, and PALB2 (J Clin Oncol 40, no. 16_suppl (June 01, 2022) 5020; NCT03748641). detail...
FANCA inact mut prostate cancer sensitive Enzalutamide + Talazoparib FDA approved Actionable In a Phase III trial (TALAPRO-2) that supported FDA approval, Talzenna (talazoparib) plus Xtandi (enzalutamide) improved median radiographic progression-free survival compared to enzalutamide plus placebo (27.9 vs 16.4 mo, HR 0.46, p=0.0003) in patients with metastatic castration-resistant prostate cancer harboring deficient homologous recombination repair genes including FANCA, with an HR of 0.66 (p=0.12) in patients with non-BRCA mutations treated with Talzenna (talazoparib) (PMID: 37285865; NCT03395197). detail... 37285865
FANCA inact mut prostate cancer sensitive Enzalutamide + Talazoparib Guideline Actionable Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic FANCA mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org). detail...
CHEK2 inact mut FANCA inact mut PTEN inact mut Her2-receptor negative breast cancer predicted - sensitive Talazoparib Case Reports/Case Series Actionable In a Phase II trial, Talzenna (talazoparib) treatment was well tolerated, and among 12 evaluable ERBB2 (HER2)-negative breast cancer patients with a homologous repair pathway mutation resulted in response in 25% (3/12) of patients, including a patient with germline mutations in CHEK2 and FANCA, and a somatic PTEN mutation (J Clin Oncol 37, no. 15_suppl (May 20, 2019) 3006). detail...
FANCA Q1307Sfs*6 hepatocellular carcinoma predicted - sensitive Cisplatin + Olaparib Case Reports/Case Series Actionable In a clinical case study, Lynparza (olaparib) and Platinol (cisplatin) combination treatment resulted in decreased tumor marker level within 1 month and disease stabilization with a progression-free survival of 12 months in a patient with hepatocellular carcinoma harboring FANCA Q1307Sfs*6 (PMID: 36181052). 36181052