FANCA R1054*
Gene Variant Detail

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Gene FANCA
Variant R1054*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions FANCA R1054* results in a premature truncation of the Fanca protein at amino acid 1054 of 1455 (UniProt.org). R1054* has not been characterized, however, due to the effects of other truncation mutations downstream of R1054 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA R1054*

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Transcript NM_000135.4
gDNA chr16:g.89749809T>A
cDNA c.3160A>T
Protein p.R1054*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000135.3 chr16:g.89749809T>A c.3160A>T p.R1054* RefSeq GRCh38/hg38
XM_005256294 chr16:g.89749809T>A c.3160A>T p.R1054* RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89749809T>A c.3160A>T p.R1054* RefSeq GRCh38/hg38
NM_000135 chr16:g.89749809T>A c.3160A>T p.R1054* RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89749809T>A c.3160A>T p.R1054* RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89749809T>A c.3160A>T p.R1054* RefSeq GRCh38/hg38
NM_001286167 chr16:g.89749809T>A c.3160A>T p.R1054* RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89749809T>A c.3160A>T p.R1054* 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