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Gene | FANCA |
Variant | Q99* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA Q99* results in a premature truncation of the Fanca protein at amino acid 99 of 1455 (UniProt.org). Q99* fails to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells in culture (PMID: 31586946). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA Q99* |
Transcript | NM_000135.4 |
gDNA | chr16:g.89811060G>A |
cDNA | c.295C>T |
Protein | p.Q99* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.4 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001018112.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001351830.1 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023046 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001351830.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001018112.3 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001018112 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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... |