FANCA R1055W
Gene Variant Detail

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Gene FANCA
Variant R1055W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA R1055W does not lie within any known functional domains of the Fanca protein (UniProt.org). R1055W confers a loss of function to the Fanca protein as demonstrated by reduced ability to activate the downstream DNA damage repair endonuclease Fen1 in an in vitro assay (PMID: 24349332), loss of Fancd2 monoubiquitination and decreased Fancd2 foci formation after mitomycin-C treatment compared to wild-type Fanca (PMID: 28864460), and loss of nuclear localization of Fanca in cultured cells (PMID: 32002546).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA R1055W

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Transcript NM_000135.4
gDNA chr16:g.89749806G>A
cDNA c.3163C>T
Protein p.R1055W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000135.4 chr16:g.89749806G>A c.3163C>T p.R1055W RefSeq GRCh38/hg38
XM_005256294 chr16:g.89749806G>A c.3163C>T p.R1055W RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89749806G>A c.3163C>T p.R1055W RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89749806G>A c.3163C>T p.R1055W RefSeq GRCh38/hg38
NM_000135 chr16:g.89749806G>A c.3163C>T p.R1055W RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89749806G>A c.3163C>T p.R1055W RefSeq GRCh38/hg38
NM_001286167 chr16:g.89749806G>A c.3163C>T p.R1055W RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89749806G>A c.3163C>T p.R1055W 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 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 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 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