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    BIOMARKER:

    RPA1 mutation

    i
    Other names: RPA1, Replication Protein A1, Replication Protein A 70 KDa DNA-Binding Subunit, Single-Stranded DNA-Binding Protein, Replication Factor A Protein 1, Replication Protein A1 70kDa, RF-A Protein 1, RP-A P70, REPA1, RPA70, Replication Protein A1 (70kD), MSTP075, MST075, HSSB, RF-A, RP-A
    Entrez ID:
    6117
    over2years
    Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene. (PubMed, Front Oncol)
    Compared with Genome Aggregation Database (gnomAD) non-cancer controls, there was significant enrichment of ultra-rare and novel RPA1, but not RPA2 or RPA3, germline variants in our cohort (adjusted p-value < 0.05). Taken together, these findings suggest that germline putative damaging variants affecting RPA1 are found in excess in children with cancer, warranting further investigation into the functional role of these variants in oncogenesis.
    Journal
    |
    RPA1 (Replication Protein A1) • RPA2 (Replication Protein A2) • RPA3 (Replication Protein A3)
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    RPA1 mutation
    over2years
    The Coexistence of Novel Mutations of FX, Dimethylglycine Dehydrogenase Genes With Familial Episodic Pain Syndrome: A Case Report (EHOC 2023)
    Tranexamic acid is preferred for menorrhagia, nosebleeds, presurgery, and surgery to prevent excessive factor administration (8,9)...Conclusion This is the first report of F10, DMGDH novel mutations, and the coexistence of TRPA1 (clinic was compatible) and TNFRSF13B with a need for investigation for immunodeficiencies in a child. In conclusion, this is the first patient with two novel mutations for FX and DMDGH deficiencies, and his family is the second with TRAP1-related FEPS1 syndrome in the World.
    Clinical
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    TNFRSF13B (TNF Receptor Superfamily Member 13B) • TRPA1 (Transient Receptor Potential Cation Channel Subfamily A Member 1)
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    RPA1 mutation
    over3years
    A Trial of Niraparib in BAP1 and Other DNA Damage Response (DDR) Deficient Neoplasms (UF-STO-ETI-001) (clinicaltrials.gov)
    P2, N=35, Completed, University of Florida | Active, not recruiting --> Completed | Trial completion date: Dec 2023 --> Aug 2022 | Trial primary completion date: Dec 2022 --> Aug 2022
    Trial completion • Trial completion date • Trial primary completion date
    |
    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • CDK2 (Cyclin-dependent kinase 2) • WRN (WRN RecQ Like Helicase) • RAD52 (RAD52 Homolog DNA Repair Protein) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FEN1 (Flap Structure-Specific Endonuclease 1) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
    |
    BARD1 mutation • WRN mutation • RPA1 mutation
    |
    Zejula (niraparib)
    over3years
    Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases. (PubMed, Sci Rep)
    Disturbed pathways in BMs versus primary HGSOC constituted a complex network and included the cell cycle, the degradation of the extracellular matrix, cell junction organization, nucleotide metabolism, lipid metabolism, the immune system, G-protein-coupled receptors, intracellular vesicular transport, and reaction to chemical stimuli (Golgi vesicle transport and olfactory signaling). Pathway analysis approaches allow for a more intuitive interpretation of the data as compared to considering single-gene aberrations and provide an opportunity to identify clinically informative alterations in HGSOC BM.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATR (Ataxia telangiectasia and Rad3-related protein) • RAD50 (RAD50 Double Strand Break Repair Protein) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • RPA1 (Replication Protein A1)
    |
    TP53 mutation • RPA1 mutation
    over4years
    A Trial of Niraparib in BAP1 and Other DNA Damage Response (DDR) Deficient Neoplasms (UF-STO-ETI-001) (clinicaltrials.gov)
    P2, N=35, Active, not recruiting, University of Florida | Suspended --> Active, not recruiting | N=57 --> 35
    Enrollment closed • Enrollment change
    |
    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • CDK2 (Cyclin-dependent kinase 2) • WRN (WRN RecQ Like Helicase) • RAD52 (RAD52 Homolog DNA Repair Protein) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FEN1 (Flap Structure-Specific Endonuclease 1) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
    |
    BARD1 mutation • WRN mutation • RPA1 mutation
    |
    Zejula (niraparib)
    over4years
    Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue. (PubMed, Blood)
    Using single-cell sequencing, the two SGR events were proven to be independently acquired in hematopoietic stem cells. In summary, we describe the first human disease caused by germline RPA1 variants in individuals with TBD/STS.
    Journal
    |
    RPA1 (Replication Protein A1)
    |
    RPA1 mutation
    over4years
    A Trial of Niraparib in BAP1 and Other DNA Damage Response (DDR) Deficient Neoplasms (UF-STO-ETI-001) (clinicaltrials.gov)
    P2, N=57, Suspended, University of Florida | Recruiting --> Suspended
    Trial suspension
    |
    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • CDK2 (Cyclin-dependent kinase 2) • WRN (WRN RecQ Like Helicase) • RAD52 (RAD52 Homolog DNA Repair Protein) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FEN1 (Flap Structure-Specific Endonuclease 1)
    |
    BARD1 mutation • WRN mutation • RPA1 mutation
    |
    Zejula (niraparib)
    over4years
    A Trial of Niraparib in BAP1 and Other DNA Damage Response (DDR) Deficient Neoplasms (UF-STO-ETI-001) (clinicaltrials.gov)
    P2, N=47, Recruiting, University of Florida | Trial completion date: Dec 2022 --> Dec 2023 | Trial primary completion date: Dec 2021 --> Dec 2022
    Trial completion date • Trial primary completion date
    |
    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • CDK2 (Cyclin-dependent kinase 2) • WRN (WRN RecQ Like Helicase) • RAD52 (RAD52 Homolog DNA Repair Protein) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FEN1 (Flap Structure-Specific Endonuclease 1)
    |
    BARD1 mutation • WRN mutation • RPA1 mutation
    |
    Zejula (niraparib)
    almost5years
    Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer (clinicaltrials.gov)
    P2, N=51, Completed, Southwest Oncology Group | Active, not recruiting --> Completed | Trial completion date: Dec 2024 --> Apr 2021 | Trial primary completion date: May 2022 --> Jan 2021
    Clinical • Trial completion • Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • RPA1 (Replication Protein A1) • FANCC (FA Complementation Group C)
    |
    BARD1 mutation • RPA1 mutation
    |
    Talzenna (talazoparib)
    almost5years
    A Trial of Niraparib in BAP1 and Other DNA Damage Response (DDR) Deficient Neoplasms (UF-STO-ETI-001) (clinicaltrials.gov)
    P2, N=47, Recruiting, University of Florida | Suspended --> Recruiting
    Enrollment open
    |
    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • CDK2 (Cyclin-dependent kinase 2) • WRN (WRN RecQ Like Helicase) • RAD52 (RAD52 Homolog DNA Repair Protein) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
    |
    BARD1 mutation • WRN mutation • RPA1 mutation
    |
    Zejula (niraparib)
    almost5years
    A Trial of Niraparib in BAP1 and Other DNA Damage Response (DDR) Deficient Neoplasms (UF-STO-ETI-001) (clinicaltrials.gov)
    P2, N=47, Suspended, University of Florida | Recruiting --> Suspended
    Trial suspension
    |
    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK4 (Cyclin-dependent kinase 4) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • CDK2 (Cyclin-dependent kinase 2) • WRN (WRN RecQ Like Helicase) • RAD52 (RAD52 Homolog DNA Repair Protein) • BACH1 (BTB Domain And CNC Homolog 1) • FANCG (FA Complementation Group G) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • RPA1 (Replication Protein A1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
    |
    BARD1 mutation • WRN mutation • RPA1 mutation
    |
    Zejula (niraparib)
    5years
    SUKSES-B: Olaparib Monotherapy in Relapsed Small Cell Lung Cancer Patients With HR Pathway Gene Mutations Not Limited to BRCA 1/2 Mutations, ATM Deficiency or MRE11A Mutations (clinicaltrials.gov)
    P2, N=15, Completed, Samsung Medical Center | Recruiting --> Completed | N=28 --> 15 | Trial completion date: Sep 2021 --> Jan 2021 | Trial primary completion date: Sep 2021 --> Jan 2021
    Clinical • Trial completion • Enrollment change • Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • RAD51 (RAD51 Homolog A) • RAD51B (RAD51 Paralog B) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • WRN (WRN RecQ Like Helicase) • RAD52 (RAD52 Homolog DNA Repair Protein) • RECQL5 (RecQ Like Helicase 5) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4) • RPA1 (Replication Protein A1)
    |
    BRCA2 mutation • BRCA1 mutation • RAD51C mutation • RAD51D mutation • RAD50 mutation • RAD51B mutation • BLM mutation • MRE11A mutation • RAD54L mutation • NBN mutation • WRN mutation • RAD52 mutation • RECQL mutation • RECQL4 mutation • RECQL5 mutation • RPA1 mutation
    |
    Lynparza (olaparib)