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    GENE:

    FANCA (FA Complementation Group A)

    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
    5d
    SPORE: A Study of Pembrolizumab and Olaparib for People With Metastatic Pancreatic Ductal Adenocarcinoma and Homologous Recombination Deficiency or Exceptional Treatment Response to Platinum-Based Therapy (clinicaltrials.gov)
    P2, N=63, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2026 --> Jan 2027
    Trial completion date • Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • BAP1 (BRCA1 Associated Protein 1) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FANCC (FA Complementation Group C)
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    MSK-IMPACT
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    Keytruda (pembrolizumab) • Lynparza (olaparib)
    6d
    PARPi-PANC: Niraparib as First Line Therapy With Metastatic Homologous Repair-deficient Pancreatic Cancer (clinicaltrials.gov)
    P2, N=2, Terminated, Centre Leon Berard | Withdrawn --> Terminated; Study not feasible, patient accrual rate too low.
    Trial termination
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha) • FANCD2 (FA Complementation Group D2)
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    Zejula (niraparib)
    18d
    Homologous recombination repair gene variants in hormone-sensitive prostate cancer (PubMed, Zhonghua Bing Li Xue Za Zhi)
    BRCA2 is the most common gene with germline variations, while CDK12 is the most frequently mutated gene in somatic HRR variants. This study suggests that HRR gene testing in patients with high-risk HSPC would help identify those with more aggressive clinical features and guide prognostication and potential targeted therapeutic strategies.
    Retrospective data • Journal • BRCA Biomarker
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • FANCA (FA Complementation Group A) • RAD51D (RAD51 paralog D)
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    KRAS mutation • PTEN mutation
    28d
    Evolution of AR and non-AR alterations in circulating tumor DNA of metastatic prostate cancer patients treated in the phase 3 Alliance A031201 trial. (PubMed, Clin Cancer Res)
    AR alterations in ctDNA accumulate at progression in mCRPC patients treated with ARPIs, especially in those with initially durable responses. These findings support the use of liquid biopsy to serially track resistance mechanisms and inform precision therapy in advanced prostate cancer.
    P3 data • Journal • Circulating tumor DNA
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • FANCA (FA Complementation Group A) • POLD1 (DNA Polymerase Delta 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • ZNRF3 (Zinc And Ring Finger 3)
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    Xtandi (enzalutamide) • abiraterone acetate
    1m
    PEPN2112: Elimusertib for the Treatment of Relapsed or Refractory Solid Tumors (clinicaltrials.gov)
    P1/2, N=31, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Nov 2025 --> Mar 2026
    Trial completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • WT1 (WT1 Transcription Factor) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • POLD1 (DNA Polymerase Delta 1) • FOXO1 (Forkhead box O1) • XRCC2 (X-Ray Repair Cross Complementing 2) • ATF1 (Activating Transcription Factor 1) • PAX3 (Paired Box 3)
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    elimusertib (BAY 1895344)
    1m
    NePtune: Study of Neoadjuvant PARP Inhibition Followed by Radical Prostatectomy in Patients With Unfavorable Intermediate-Risk or High-Risk Prostate Cancer With Select HRR Gene Alterations (clinicaltrials.gov)
    P2, N=32, Recruiting, Rana McKay, MD | Trial primary completion date: Dec 2025 --> Mar 2026
    Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L2 (RAD54 Like 2)
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    Lynparza (olaparib) • triptorelin • goserelin acetate • leuprolide acetate for depot suspension
    1m
    β-Human Chorionic Gonadotropin-Secreting Giant Cell Tumor of Bone in the Mandible: Case Report and Comprehensive Literature Review. (PubMed, Head Neck Pathol)
    There is only one other case that has been documented of a β-hCG-producing GCTBoccurring in the base of the skull with secondary aneurysmal bone cyst-like changes.This appears to be the first reported instance of β-hCG-secreting GCTB in the gnathicbones. This case exemplifies the diagnostic challenges of rare presentations of GCTBand alerts clinicians to the potential misleading presentation of hormone expression.
    Review • Journal
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    FANCA (FA Complementation Group A) • TP63 (Tumor protein 63) • H3-3A (H3.3 Histone A)
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    Prolia (denosumab)
    1m
    NCI-2017-02296: Testing Olaparib in Patients With Advanced or Metastatic (Cancer That Has Spread) Bladder Cancer and Other Genitourinary Tumors With DNA-Repair Genetic Changes (clinicaltrials.gov)
    P2, N=60, Recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Dec 2025 --> Dec 2026
    Trial completion date • Trial primary completion date • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ABL1 (ABL proto-oncogene 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • NPM1 (Nucleophosmin 1) • POLE (DNA Polymerase Epsilon) • CCND1 (Cyclin D1) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • BRD4 (Bromodomain Containing 4) • DOT1L (DOT1 Like Histone Lysine Methyltransferase) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • IKBKE (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon) • FANCC (FA Complementation Group C)
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    PALB2 mutation • BRIP1 mutation
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    FoundationOne® CDx • FoundationOne® Liquid CDx
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    Lynparza (olaparib)
    1m
    Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High-Risk Pediatric Populations. (PubMed, Mol Genet Genomic Med)
    Early genetic screening for Fanconi anemia in high-risk pediatric populations has proven to be an effective strategy for ensuring prompt diagnosis and timely management. Incorporating this screening into routine clinical practices could significantly enhance patient outcomes, reduce healthcare costs, and alleviate the impact of this serious genetic condition.
    Retrospective data • Journal
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    FANCA (FA Complementation Group A)
    2ms
    Characteristics of uterine leiomyosarcoma: a clinicopathological and molecular genetic analysis of twenty-four cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
    Secondary morphological changes in uterine leiomyosarcomas associated with hormone therapy pose significant diagnostic challenges. Next generation sequencing can provide valuable evidence for the diagnosis of morphologically challenging cases of leiomyosarcoma in clinical practice.
    Retrospective data • Journal • Tumor mutational burden • BRCA Biomarker
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • HRD (Homologous Recombination Deficiency) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BARD1 (BRCA1 Associated RING Domain 1) • FANCM (FA Complementation Group M) • FANCE (FA Complementation Group E)
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    TP53 mutation • TMB-H • TMB-L • RAD51B mutation
    2ms
    TBCRC 048: Olaparib In Metastatic Breast Cancer (clinicaltrials.gov)
    P2, N=114, Active, not recruiting, Beth Israel Deaconess Medical Center | Trial completion date: Dec 2025 --> Jun 2026
    Trial completion date
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    PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • 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) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCC (FA Complementation Group C)
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    HR positive • PALB2 mutation • PGR positive • BRCA mutation
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    Lynparza (olaparib)
    2ms
    Molecular alteration profiles characterize intraductal carcinoma of the prostate. (PubMed, Cancer)
    IDC-P possesses a distinct molecular and immunological profile. Understanding these molecular underpinnings is crucial for the development of personalized treatment strategies for histologically distinct prostate cancer subsets.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • AR (Androgen receptor) • IFNG (Interferon, gamma) • CD276 (CD276 Molecule) • CEACAM5 (CEA Cell Adhesion Molecule 5) • DLL3 (Delta Like Canonical Notch Ligand 3) • FANCA (FA Complementation Group A) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • STEAP1 (STEAP Family Member 1) • MUTYH (MutY homolog) • PSCA (Prostate Stem Cell Antigen 2) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
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    HER-2 expression