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    BIOMARKER:

    ERCC4 mutation

    i
    Other names: ERCC4, ERCC Excision Repair 4, Endonuclease Catalytic Subunit, FANCQ, RAD1, XPF, Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 4, Xeroderma Pigmentosum Group F-Complementing Protein, Xeroderma Pigmentosum, Complementation Group F, Excision Repair Cross-Complementation Group 4, DNA Repair Protein Complementing XP-F Cells, DNA Excision Repair Protein ERCC-4, DNA Repair Endonuclease XPF, ERCC11, Excision-Repair, Complementing Defective, In Chinese Hamster, XFEPS
    Entrez ID:
    2072
    Related biomarkers:
    Others
    6ms
    Clinicopathological and molecular genetic analysis of 13 cases of primary retroperitoneal Ewing sarcoma. (PubMed, Ann Diagn Pathol)
    RES is an aggressive, high-grade tumor, prone to multiple recurrences and metastases, with distinctive morphologic, immunohistochemical, and molecular genetic features. ERCC4 splicing mutation, which is a novel pathogenic variant discovered for the first time, with possible significance for understanding the disease, as well as the development of targeted drugs.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • EWSR1 (EWS RNA Binding Protein 1) • NCAM1 (Neural cell adhesion molecule 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • CD99 (CD99 Molecule) • PAX7 (Paired Box 7)
    |
    ERCC4 mutation
    7ms
    Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor-mimicking lesions in the brain and acute neurological deterioration. (PubMed, Pediatr Blood Cancer)
    One case died due to hepatocellular carcinoma. ERCC4/XPF gene mutation was detected in both siblings.
    Journal
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    ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit)
    |
    ERCC4 mutation
    2years
    Distinct clinicopathological characteristics, genomic alteration and prognosis in breast cancer with concurrent TP53 mutation and MYC amplification. (PubMed, Thorac Cancer)
    TP53/MYC co-alteration was associated with distinct clinicopathological and genomic features. They also conferred unfavorable prognosis in BC patients, and did not improve pCR after neoadjuvant chemotherapy.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • TGFB1 (Transforming Growth Factor Beta 1) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • FANCG (FA Complementation Group G)
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    HER-2 positive • TP53 mutation • MYC amplification • ERCC4 mutation • FANCG mutation
    2years
    Individualized combination therapies based on whole-exome sequencing displayed significant clinical benefits in a glioblastoma patient with secondary osteosarcoma: case report and genetic characterization. (PubMed, BMC Neurol)
    Individualized combination therapies based on whole-exome sequencing displayed significant clinical benefits in this case. Germline MSH3 and ERCC4 mutation may induce a secondary osteosarcoma in glioblastoma patients.
    Journal • Combination therapy • PD(L)-1 Biomarker
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    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • CDH1 (Cadherin 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • EPAS1 (Endothelial PAS domain protein 1) • MSH3 (MutS Homolog 3) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit)
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    NF1 mutation • TERT mutation • MSH3 mutation • IDH wild-type • SETD2 mutation • ERCC4 mutation
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    Keytruda (pembrolizumab) • everolimus • temozolomide