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    BIOMARKER:

    FANCA mutation

    i
    Other names: FANCA, FA Complementation Group A, Fanconi Anemia Complementation Group A, Fanconi Anemia Group A Protein, FANCH, FACA, FAA, Fanconi Anemia Complementation Group H, Fanconi Anemia Type 1, Protein FACA, FA-H, FA1, FAH, FA
    Entrez ID:
    2175
    Related biomarkers:
    Mutation
    CNA
    Others
    12ms
    Genetic landscape of Romanian PPGLs. (PubMed, J Cell Mol Med)
    RET pathogenic variant (p.Cys634Trp) associated with MEN2A syndrome was the most prevalent in Romanian population with PPGLs and could be considered as a founder effect. Patients with hereditary disease are diagnosed at a younger age and develop bilateral tumors more frequently compared to sporadic cases.
    Retrospective data • Journal
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    RET (Ret Proto-Oncogene) • NF1 (Neurofibromin 1) • VHL (von Hippel-Lindau tumor suppressor) • FANCA (FA Complementation Group A) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • SDHD (Succinate Dehydrogenase Complex Subunit D)
    |
    NF1 mutation • RET mutation • VHL mutation • FANCA mutation • SDHB mutation
    1year
    Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect. (PubMed, Am J Med Genet A)
    We carried out an easy and effective PCR-based diagnostic test for detecting this mutation, enabling precise diagnosis and genetic counseling for affected individuals and their families. This study provides valuable insights into the molecular mechanisms underlying FA pathogenesis and offers a practical approach for genetic diagnosis in affected individuals, particularly those of Turkish descent.
    Journal
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    FANCA (FA Complementation Group A)
    |
    FANCA mutation
    1year
    Prognostic significance of mutation type and chromosome fragility in Fanconi anemia. (PubMed, Am J Hematol)
    This finding should encourage the development of novel therapeutic strategies aimed at partially or fully enhancing mutant FA function, thereby preventing or delaying bone marrow failure and cancer in patients with FA. Clinical Trial Registration number: NCT06490510.
    Journal
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    FANCA (FA Complementation Group A) • FANCD2 (FA Complementation Group D2) • FANCG (FA Complementation Group G)
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    FANCA mutation • FANCG mutation
    1year
    Translational Research on Azacitidine Post-Remission Therapy of Acute Myeloid Leukemia in Elderly Patients (QOL-ONE Trans-2). (PubMed, Int J Mol Sci)
    FANCA mutations in four patients were linked to a higher relapse risk (HR = 4.96, p = 0.02) for DFS at both 2 and 5 years. Further HLA-specific NGS analyses are ongoing to confirm these results and their therapeutic implications.
    Clinical • Journal
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    NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • FANCA (FA Complementation Group A)
    |
    NPM1 mutation • DNMT3A mutation • FANCA mutation
    |
    azacitidine
    1year
    Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma. (PubMed, Br J Cancer)
    These findings provide novel insights into the molecular portrait of ALCL, that could help improve treatment strategies and the prognosis for ALCL patients.
    Journal
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    ALK (Anaplastic lymphoma kinase) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • YAP1 (Yes associated protein 1) • FAT4 (FAT Atypical Cadherin 4) • STAT1 (Signal Transducer And Activator Of Transcription 1)
    |
    ALK positive • ALK translocation • FANCA mutation • ALK negative
    1year
    Testing the Sequential Combination of the Anti-cancer Drugs Olaparib Followed by Adavosertib (AZD1775) in Patients With Advanced Solid Tumors With Selected Mutations and PARP Resistance, STAR Study (clinicaltrials.gov)
    P1, N=13, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Sep 2024 --> Sep 2025
    Trial completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CD4 (CD4 Molecule)
    |
    BRCA2 mutation • BRCA1 mutation • CCNE1 amplification • BRIP1 mutation • FANCA mutation
    |
    Lynparza (olaparib) • adavosertib (AZD1775)
    1year
    TRIUMPH: Trial of Rucaparib in Patients With Metastatic Hormone-Sensitive Prostate Cancer Harboring Germline DNA Repair Gene Mutations (clinicaltrials.gov)
    P2, N=12, Completed, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Active, not recruiting --> Completed | N=30 --> 12
    Trial completion • Enrollment change • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCF (FA complementation group F) • FANCL (FA Complementation Group L) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • FANCB (FA Complementation Group B) • FANCC (FA Complementation Group C)
    |
    CHEK2 mutation • RAD51C mutation • FANCA mutation • RAD51D mutation • RAD50 mutation • FANCF mutation • NBN mutation • FANCG mutation • FANCI mutation • FANCM mutation
    |
    Rubraca (rucaparib)
    1year
    PROGRESS: Prostate Cancer Genetic Risk Evaluation and Screening Study (clinicaltrials.gov)
    P=N/A, N=400, Recruiting, Massachusetts General Hospital | N=200 --> 400
    Enrollment change
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • GEN1 (GEN1 Holliday junction 5' flap endonuclease) • HOXB13 (Homeobox B13)
    |
    CHEK2 mutation • BRIP1 mutation • RAD51C mutation • FANCA mutation • RAD51D mutation • PMS2 mutation • NBN mutation
    1year
    FANCA promotes lung adenocarcinoma progression and is a potential target for epitope vaccine immunotherapy. (PubMed, J Transl Med)
    These results demonstrated that the elevation of FANCA promotes malignant phenotype of LUAD, and the potential peptide P2 (SLLEFAQYL) derived from FANCA may be used as an epitope vaccine for the treatment of LUAD.
    Journal • IO biomarker
    |
    FANCA (FA Complementation Group A)
    |
    FANCA mutation
    1year
    CHANGEABLE: Combination of HX008 And Niraparib in GErm-line-mutAted Metastatic Breast Cancer (clinicaltrials.gov)
    P2, N=37, Completed, Fudan University | Recruiting --> Completed
    Trial completion • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCF (FA complementation group F) • WRN (WRN RecQ Like Helicase) • FANCM (FA Complementation Group M) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCC (FA Complementation Group C)
    |
    HER-2 positive • BRCA2 mutation • BRCA1 mutation • HR positive • HER-2 negative • ATM mutation • PALB2 mutation • CDK12 mutation • BAP1 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • FANCA mutation • HR positive + HER-2 negative • RAD50 mutation • BARD1 mutation • BLM mutation • CHEK1 mutation • FANCF mutation • MRE11A mutation • NBN mutation • FANCM mutation • PTEN mutation + HR positive • CHEK1 expression • HER-2 negative + HR positive + BRCA mutation
    |
    Herceptin (trastuzumab) • Zejula (niraparib) • Puyouheng (pucotenlimab)
    1year
    Clinical characteristics and genomic profiling of outpatients with endometrial cancer at a Chinese tertiary cancer center. (PubMed, Discov Oncol)
    Outpatients department gathered a considerable proportion of recurrent patients with complex genomic features. Patients with worse prognosis could be well studied, and anti-PD1 therapy was a promising salvage therapy in the real world.
    Journal • BRCA Biomarker • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • FANCA (FA Complementation Group A) • RAD50 (RAD50 Double Strand Break Repair Protein) • MUTYH (MutY homolog)
    |
    BRCA2 mutation • BRCA1 mutation • MSI-H/dMMR • MSH2 mutation • FANCA mutation • MLH1 mutation • RAD50 mutation
    1year
    Real-world prevalence of homologous recombination repair (HRR) gene mutations in advanced breast (ABC) and selected gastrointestinal cancers (GIC) using comprehensive next-generation sequencing (NGS) assays in Asia and the Middle East (AME) (ESMO Asia 2024)
    For cfDNA: Detection rates of NCCNr and HRRm were similar to those reported for tissue-based NGS in analyzed cancer types. Conclusions Mutations in HRR genes can be successfully analyzed using either tumor tissue or cfDNA NGS.
    Real-world evidence • Clinical • BRCA Biomarker • Next-generation sequencing • Real-world • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51D (RAD51 paralog D)
    |
    BRAF V600E • KRAS G12C • BRAF V600 • KRAS G12 • FANCA mutation
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