Gene Variant Detail

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Gene FANCA
Variant Y510C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA Y510C does not lie within any known functional domains of the Fanca protein (UniProt.org). Y510C leads to defective nuclear localization of Fanca and results in a loss of Fanca interaction with the Fancb/Fancl complex and decreased binding to Fancg in cell culture (PMID: 16720839).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA Y510C

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Transcript NM_000135.4
gDNA chr16:g.89783044T>C
cDNA c.1529A>G
Protein p.Y510C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005256294 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_017023045 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_011522948 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
NM_001286167 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_011522945 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
NM_000135 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
XM_017023044 chr16:g.89783044T>C c.1529A>G p.Y510C RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89783044T>C c.1529A>G p.Y510C 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 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...
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...