FANCA D1359Y
Gene Variant Detail

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Gene FANCA
Variant D1359Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA D1359Y does not lie within any known functional domains of the Fanca protein (UniProt.org). D1359Y confers a loss of function to the Fanca protein, as indicated by decreased Fancd2 and Fanci monoubiquitination, reduced Fancd2 foci formation upon MMC treatment in cultured cells (PMID: 28864460), decreased survival upon MMC treatment in FANCA-deficient cells, and decreased interaction with Fancc and Fancf in culture (PMID: 12444097).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA D1359Y

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Transcript NM_000135.4
gDNA chr16:g.89739225C>A
cDNA c.4075G>T
Protein p.D1359Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000135.3 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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 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 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