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    GENE:

    ERCC2 (Excision repair cross-complementation group 2)

    i
    Other names: ERCC2, EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH, XPD, Excision repair cross-complementation group 2
    14d
    Comprehensive genomic profiling of synchronous invasive adenocarcinoma and squamous cell carcinoma within the same lobe: a case report. (PubMed, Transl Lung Cancer Res)
    This case demonstrates that synchronous lung cancers may result from the combined effects of carcinogen-induced field cancerization and DNA repair deficiencies. The identification of PMS2 and ERCC2 alterations provides mechanistic evidence of genetic vulnerability, highlighting the importance of counseling, surveillance, and potential DNA repair-targeted strategies.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • ERCC2 (Excision repair cross-complementation group 2) • PMS2 (PMS1 protein homolog 2) • DRD (DNA Repair Deficiency)
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    DDR
    1m
    The association between DNA repair genes polymorphisms and cisplatin-induced ototoxicity in cancer patients: a systematic review. (PubMed, Per Med)
    Although several DNA repair gene polymorphisms have been explored, findings remain inconsistent and limited by populations and SNPs studied. Larger, well-designed studies with standardized methodologies are needed to confirm these associations and identify genetic markers for predicting high-risk patients for CIO.
    Review • Journal
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    ERCC1 (Excision repair cross-complementation group 1) • ERCC2 (Excision repair cross-complementation group 2) • GSTP1 (Glutathione S-transferase pi 1) • FASLG (Fas ligand) • MSH3 (MutS Homolog 3) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • XPA (XPA, DNA Damage Recognition And Repair Factor) • XRCC1 (X-Ray Repair Cross Complementing 1)
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    cisplatin
    2ms
    Single Nucleotide Polymorphisms as Biomarkers of Response to Neoadjuvant Chemoradiotherapy in Rectal Cancer: A Systematic Review. (PubMed, Cancers (Basel))
    Although XRCC1 and MTHFR polymorphisms have been extensively studied, their predictive utility remains inconclusive. Future research should prioritize large, multicenter prospective studies with standardized treatment and outcome definitions, and consider polygenic risk models or integrated multi-omic approaches.
    Review • Journal
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    ERCC1 (Excision repair cross-complementation group 1) • ERCC2 (Excision repair cross-complementation group 2) • TYMS (Thymidylate Synthetase) • MTHFR (Methylenetetrahydrofolate Reductase) • XRCC1 (X-Ray Repair Cross Complementing 1) • XRCC3 (X-Ray Repair Cross Complementing 3)
    3ms
    Altered expression of nucleotide excision repair genes ERCC2 and ERCC5 in prostate cancer tissues. (PubMed, Cancer Genet)
    Furthermore, the expression of both genes remained unaffected by key clinical variables, including smoking, diabetes, hypertension, nodule presence, PSA level, Gleason, and PIRADS scores. The high expression of the ERCC5 gene in prostate cancer suggests that the NER pathway plays a significant role in this disease, and that ERCC5 may be considered a potential biomarker.
    Journal
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    ERCC2 (Excision repair cross-complementation group 2) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2)
    3ms
    Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region. (PubMed, Cells)
    Therapeutic annotation using OncoKB identified 223 actionable or likely oncogenic variants, highlighting potential targets for precision oncology. This study provides a comprehensive characterization of the breast cancer mutational landscape in MENA patients and offers a valuable resource for advancing genomic and therapeutic research in this demographic.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • SF3B1 (Splicing Factor 3b Subunit 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • ERCC2 (Excision repair cross-complementation group 2) • KMT2C (Lysine Methyltransferase 2C) • RAD51C (RAD51 paralog C) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) • GATA3 (GATA binding protein 3)
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    TP53 mutation • PIK3CA mutation • ATM mutation • PTEN mutation
    3ms
    Genetic landscape and therapeutic evolution of cyclophosphamide: spotlight on breast cancer. (PubMed, J Chemother)
    Null variants in GSTM1 and GSTT1 are linked to increased drug toxicity due to impaired detoxification. DNA repair gene variants, such as XRCC1 Arg399Gln and ERCC2 Lys751Gln, influence treatment response and risk of side effects.
    Review • Journal
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    ABCB1 (ATP Binding Cassette Subfamily B Member 1) • ERCC1 (Excision repair cross-complementation group 1) • ERCC2 (Excision repair cross-complementation group 2) • GSTP1 (Glutathione S-transferase pi 1) • ALDH1A1 (Aldehyde Dehydrogenase 1 Family Member A1) • CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) • CYP3A4 (Cytochrome P450, family 3, subfamily A, polypeptide 4) • CYP3A5 (Cytochrome P450 Family 3 Subfamily A Member 5) • GSTM1 (Glutathione S-transferase mu 1) • XRCC1 (X-Ray Repair Cross Complementing 1) • GSTT1 (Glutathione S-transferase theta 1)
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    cyclophosphamide
    4ms
    Novel molecular biomarkers associated with Taxane-induced toxicities in women with breast cancer from the Brazilian Amazon. (PubMed, Clin Transl Oncol)
    These findings represent a unique contribution to the field, potentially enabling more precise chemotherapy selection, particularly for populations such as Amazonian women.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • ABCB1 (ATP Binding Cassette Subfamily B Member 1) • ERCC1 (Excision repair cross-complementation group 1) • ERCC2 (Excision repair cross-complementation group 2) • RAD51 (RAD51 Homolog A) • MTHFR (Methylenetetrahydrofolate Reductase) • CYP3A5 (Cytochrome P450 Family 3 Subfamily A Member 5) • XRCC1 (X-Ray Repair Cross Complementing 1) • CYP1A1 (Cytochrome P450 Family 1 Subfamily A Member 1) • CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1) • SOD2 (Superoxide Dismutase 2)
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    paclitaxel • docetaxel
    5ms
    Case Report: Genomic profiling in an invasive solid papillary carcinoma patient with liver metastasis and a history of invasive lobular carcinoma. (PubMed, Pathol Oncol Res)
    Some meaningful genetic variations were identified by NGS. Further studies are needed to elucidate the molecular characteristics of SPC and explore the best therapeutic strategies.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • ERCC2 (Excision repair cross-complementation group 2) • KMT2C (Lysine Methyltransferase 2C) • GATA3 (GATA binding protein 3) • SYP (Synaptophysin)
    5ms
    Design, synthesis and biological evaluation of magnolol-sulforaphane hybrid analogues as potential therapeutics of triple-negative breast cancer. (PubMed, Eur J Med Chem)
    Mechanistically, RNA sequencing revealed that 17a downregulated the nucleotide excision repair (NER) and NF-κB pathways, suppressing expression of NER-related genes (ERCC2, POLE2, LIG1, GTF2H3, and DDB2) at mRNA and protein levels and inhibiting phosphorylation of IKKα and p65. These findings position 17a as a potent therapeutic candidate for TNBC treatment, warranting further clinical investigation.
    Journal
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    ERCC2 (Excision repair cross-complementation group 2) • DDB2 (Damage Specific DNA Binding Protein 2) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) • LRIG1 (Leucine Rich Repeats And Immunoglobulin Like Domains 1)
    6ms
    Development of a predictive model for neutropenia risk in Japanese breast cancer patients treated with doxorubicin and cyclophosphamide. (PubMed, Br J Clin Pharmacol)
    CIN was linked to improved survival in breast cancer patients. The predictive model including genetic factors provided a more accurate assessment of CIN risk, potentially enabling more personalized treatment approaches.
    Journal
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    ABCB1 (ATP Binding Cassette Subfamily B Member 1) • ERCC1 (Excision repair cross-complementation group 1) • ERCC2 (Excision repair cross-complementation group 2) • XRCC3 (X-Ray Repair Cross Complementing 3)
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    doxorubicin hydrochloride • cyclophosphamide
    6ms
    Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer. (PubMed, J Clin Invest)
    Comparison with computational algorithms showed substantial discrepancies, highlighting the importance of precision functional assays for interpreting mutation effects in clinically relevant contexts. Our results demonstrate that CRISPR-Select provides a robust platform to advance biomarker-driven therapy in bladder cancer and supports its potential integration into precision oncology workflows.
    Journal
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    ERCC2 (Excision repair cross-complementation group 2)
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    cisplatin
    7ms
    Genetic variants and clinical determinants affecting the response to 5-Fluorouracil-based treatment in Chilean patients with advanced colorectal cancer. (PubMed, Front Oncol)
    Standard treatment involves surgical resection followed by 5-fluorouracil-based chemotherapy, often combined with oxaliplatin or irinotecan. This study provides a foundation for developing pharmacogenetic-based predictive models for adverse reactions associated with 5-FU, including neuropathy, mucositis, and hematological and skin toxicities. Future research may refine these models to enable personalized dose adjustments, improving chemotherapy safety in Chilean colorectal patients.
    Journal
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    ABCB1 (ATP Binding Cassette Subfamily B Member 1) • ERCC2 (Excision repair cross-complementation group 2) • ABCG2 (ATP Binding Cassette Subfamily G Member 2) • GSTP1 (Glutathione S-transferase pi 1) • TYMS (Thymidylate Synthetase) • MTHFR (Methylenetetrahydrofolate Reductase) • ABCC2 (ATP Binding Cassette Subfamily C Member 2) • DPYD (Dihydropyrimidine Dehydrogenase)
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    5-fluorouracil • oxaliplatin • irinotecan