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Disease on EC 3.1.21.10 - crossover junction endodeoxyribonuclease

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma
Exceptional response to FOLFIRINOX in a patient with pancreatic cancer and a germline RAD51C mutation.
Translational study identifies XPF and MUS81 as predictive biomarkers for oxaliplatin-based peri-operative chemotherapy in patients with esophageal adenocarcinoma.
Anemia
Intracellular dynamics of archaeal FANCM homologue Hef in response to halted DNA replication.
Astrocytoma
Expression analyses of 27 DNA repair genes in astrocytoma by TaqMan low-density array.
Ataxia
Rad51C-ATXN7 fusion gene expression in colorectal tumors.
Ataxia Telangiectasia
Bloom's syndrome helicase and Mus81 are required to induce transient double-strand DNA breaks in response to DNA replication stress.
RAD51C facilitates checkpoint signaling by promoting CHK2 phosphorylation.
Bloom Syndrome
Aberrant chromosome morphology in human cells defective for Holliday junction resolution.
Bloom syndrome ortholog HIM-6 maintains genomic stability in C. elegans.
Bloom's syndrome helicase and Mus81 are required to induce transient double-strand DNA breaks in response to DNA replication stress.
Damage tolerance protein Mus81 associates with the FHA1 domain of checkpoint kinase Cds1.
Deficiency of Bloom's syndrome protein causes hypersensitivity of C. elegans to ionizing radiation but not to UV radiation, and induces p53-dependent physiological apoptosis.
Interplay between structure-specific endonucleases for crossover control during Caenorhabditis elegans meiosis.
Multiple genetic pathways involving the Caenorhabditis elegans Bloom's syndrome genes him-6, rad-51, and top-3 are needed to maintain genome stability in the germ line.
Synthetic lethality of Drosophila in the absence of the MUS81 endonuclease and the DmBlm helicase is associated with elevated apoptosis.
The Bloom syndrome complex senses RPA-coated single-stranded DNA to restart stalled replication forks.
The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis.
Bone Marrow Failure Disorders
PALB2 (partner and localizer of BRCA2).
Breast Neoplasms
17q23 amplifications in breast cancer involve the PAT1, RAD51C, PS6K, and SIGma1B genes.
A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.
A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.
A Population-Based Study of Genes Previously Implicated in Breast Cancer.
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Association of RAD51C germline mutations with breast cancer among Bahamians.
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
Combined tumor sequencing and case/control analyses of RAD51C in breast cancer.
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.
Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Effect of RAD51C expression on the chemosensitivity of E?-Myc p19Arf-/- cells and its clinical significance in breast cancer.
Estrogen induces RAD51C expression and localization to sites of DNA damage.
Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians.
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
Fanconi anemia and breast cancer susceptibility meet again.
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.
Genetic testing for RAD51C mutations: in the clinic and community.
Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
Genetics of triple-negative breast cancer: Implications for patient care.
Germline mutations in RAD51C in Jewish high cancer risk families.
Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina.
Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.
Inhibition of Mus81 by siRNA enhances sensitivity to 5-FU in breast carcinoma cell lines.
Mus81 knockdown improves chemosensitivity of hepatocellular carcinoma cells by inducing S-phase arrest and promoting apoptosis through CHK1 pathway.
Mutation analysis of RAD51L1 (RAD51B/REC2) in multiple-case, non-BRCA1/2 breast cancer families.
Mutation screening of RAD51C in high-risk breast and ovarian cancer families.
Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.
Noninvasive Surface Imaging of Breast Cancer in Humans using a Hand-held Optical Imager.
Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D.
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.
Prepubertal genistein exposure affects erbB2/Akt signal and reduces rat mammary tumorigenesis.
RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families.
RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
RAD51C germline mutations in Chinese women with familial breast cancer.
RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.
Rad51C-ATXN7 fusion gene expression in colorectal tumors.
RAD51C: A Novel Cancer Susceptibility Gene is linked to Fanconi Anemia and Breast Cancer.
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.
Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients.
Screening of HELQ in breast and ovarian cancer families.
Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer.
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases.
Single nucleotide polymorphisms in noncoding regions of Rad51C do not change the risk of unselected breast cancer but they modulate the level of oxidative stress and the DNA damage characteristics: a case-control study.
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
Targeting BRCA1- and BRCA2-deficient cells with RAD52 small molecule inhibitors.
The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.
Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation.
[New primary malignancies after breast cancer diagnosis: interplay of genetics, risk factors and treatment modalities].
Breast Neoplasms, Male
Mutation screening of RAD51C in male breast cancer patients.
Carcinogenesis
Clinical significance of RAD51C and its contribution to ovarian carcinogenesis.
Comprehensive role of prostate-specific antigen identified with proteomic analysis in prostate cancer.
Disruption of murine Mus81 increases genomic instability and DNA damage sensitivity but does not promote tumorigenesis.
High expression of Rad51c predicts poor prognostic outcome and induces cell resistance to cisplatin and radiation in non-small cell lung cancer.
Loss of Rad51c accelerates tumourigenesis in sebaceous glands of Trp53-mutant mice.
Loss of Rad51c leads to embryonic lethality and modulation of Trp53-dependent tumorigenesis in mice.
Whence High-Grade Serous Ovarian Cancer.
[The mutation and expression of MUS81 gene in laryngeal squamous cell carcinoma.]
Carcinoma
Acquired RAD51C Promoter Methylation Loss Causes PARP Inhibitor Resistance in High-Grade Serous Ovarian Carcinoma.
Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.
Clinical characteristics and outcomes of patients with BRCA1 or RAD51C methylated versus mutated ovarian carcinoma.
Clinical significance of RAD51C and its contribution to ovarian carcinogenesis.
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.
Loss of Rad51c accelerates tumourigenesis in sebaceous glands of Trp53-mutant mice.
Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D.
Rad51c- and Trp53-double-mutant mouse model reveals common features of homologous recombination-deficient breast cancers.
Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.
[The mutation and expression of MUS81 gene in laryngeal squamous cell carcinoma.]
Carcinoma, Hepatocellular
Decreased expression of methyl methansulfonate and ultraviolet-sensitive gene clone 81 (Mus81) is correlated with a poor prognosis in patients with hepatocellular carcinoma.
Downregulation of Mus81 as a novel prognostic biomarker for patients with colorectal carcinoma.
Mus81 knockdown improves chemosensitivity of hepatocellular carcinoma cells by inducing S-phase arrest and promoting apoptosis through CHK1 pathway.
Mus81 knockdown sensitizes colon cancer cells to chemotherapeutic drugs by activating CHK1 pathway.
Carcinoma, Non-Small-Cell Lung
High expression of Rad51c predicts poor prognostic outcome and induces cell resistance to cisplatin and radiation in non-small cell lung cancer.
The G4 Resolvase DHX36 Possesses a Prognosis Significance and Exerts Tumour Suppressing Function Through Multiple Causal Regulations in Non-Small Cell Lung Cancer.
Carcinoma, Ovarian Epithelial
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
GEN-1 in Combination with Neoadjuvant Chemotherapy for Patients with Advanced Epithelial Ovarian Cancer: A Phase I Dose-escalation Study.
Inhibition of MUS81 improves the chemical sensitivity of olaparib by regulating MCM2 in epithelial ovarian cancer.
MUS81 Inhibition Increases the Sensitivity to Therapy Effect in Epithelial Ovarian Cancer via Regulating CyclinB Pathway.
Setting the Threshold for Surgical Prevention in Women at Increased Risk of Ovarian Cancer.
Targeting DNA repair and replication stress in the treatment of ovarian cancer.
Cardiac Output, Low
Superiority of endocardial versus epicardial implantation of the implantable cardioverter defibrillator (ICD).
Cleft Lip
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Cockayne Syndrome
DNA damage during the G0/G1 phase triggers RNA-templated, Cockayne syndrome B-dependent homologous recombination.
Colonic Neoplasms
Haploinsufficiency of the Mus81-Eme1 endonuclease activates the intra-S-phase and G2/M checkpoints and promotes rereplication in human cells.
Mus81 knockdown improves chemosensitivity of hepatocellular carcinoma cells by inducing S-phase arrest and promoting apoptosis through CHK1 pathway.
Mus81 knockdown sensitizes colon cancer cells to chemotherapeutic drugs by activating CHK1 pathway.
Colorectal Neoplasms
Downregulation of Mus81 as a novel prognostic biomarker for patients with colorectal carcinoma.
Overexpression of Rad51C splice variants in colorectal tumors.
Rad51C-ATXN7 fusion gene expression in colorectal tumors.
Radiosensitisation of human colorectal cancer cells by ruthenium(II) arene anticancer complexes.
Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients.
[Expression of Mus81 gene in Chinese Han patients with colorectal cancer and its clinical significance].
Colorectal Neoplasms, Hereditary Nonpolyposis
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care.
Congenital Abnormalities
Fanconi anemia signaling and Mus81 cooperate to safeguard development and crosslink repair.
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
COVID-19
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.
crossover junction endodeoxyribonuclease deficiency
A role for recombination junctions in the segregation of mitochondrial DNA in yeast.
Deficiency of Bloom's syndrome protein causes hypersensitivity of C. elegans to ionizing radiation but not to UV radiation, and induces p53-dependent physiological apoptosis.
Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.
Haploinsufficiency of the Mus81-Eme1 endonuclease activates the intra-S-phase and G2/M checkpoints and promotes rereplication in human cells.
Human Rad51C deficiency destabilizes XRCC3, impairs recombination, and radiosensitizes S/G2-phase cells.
Loss of Rad51c leads to embryonic lethality and modulation of Trp53-dependent tumorigenesis in mice.
RAD51C deficiency in mice results in early prophase I arrest in males and sister chromatid separation at metaphase II in females.
RAD51C-deficient cancer cells are highly sensitive to the poly (ADP-ribose) polymerase inhibitor, olaparib.
Rad54 and Mus81 cooperation promotes DNA damage repair and restrains chromosome missegregation.
The ATR-Chk1 pathway plays a role in the generation of centrosome aberrations induced by Rad51C dysfunction.
Decompression Sickness
Helical phasing between DNA bends and the determination of bend direction.
The gamma delta resolvase bends the res site into a recombinogenic complex.
Diphtheria
Utilization of Rad51C promoter for transcriptional targeting of cancer cells.
Embryo Loss
Maternal SENP7 programs meiosis architecture and embryo survival in mouse.
Endometrial Neoplasms
Patterns and functional implications of rare germline variants across 12 cancer types.
Fanconi Anemia
Damage-dependent regulation of MUS81-EME1 by Fanconi anemia complementation group A protein.
Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.
Differential Requirements for the RAD51 Paralogs in Genome Repair and Maintenance in Human Cells.
Dimerization of SLX4 contributes to functioning of the SLX4-nuclease complex.
Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.
Fanconi anemia signaling and Mus81 cooperate to safeguard development and crosslink repair.
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.
Genetic evidence for ongoing balanced selection at human DNA repair genes ERCC8, FANCC, and RAD51C.
HPV-16 E7 reveals a link between DNA replication stress, fanconi anemia D2 protein, and alternative lengthening of telomere-associated promyelocytic leukemia bodies.
Human Mus81 and FANCB independently contribute to repair of DNA damage during replication.
Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.
Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart.
Mouse SLX4 Is a Tumor Suppressor that Stimulates the Activity of the Nuclease XPF-ERCC1 in DNA Crosslink Repair.
Overexpression of Rad51C splice variants in colorectal tumors.
PALB2 (partner and localizer of BRCA2).
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
RAD51C: A Novel Cancer Susceptibility Gene is linked to Fanconi Anemia and Breast Cancer.
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Targeting DNA repair and replication stress in the treatment of ovarian cancer.
XPF-ERCC1 participates in the Fanconi anemia pathway of crosslink repair.
Fowlpox
DNA binding and cleavage by the fowlpox virus resolvase.
Metal Cofactors in the Structure and Activity of the Fowlpox Resolvase.
Structural insights into the promiscuous DNA binding and broad substrate selectivity of fowlpox virus resolvase.
Head and Neck Neoplasms
Rad51C: A novel suppressor gene modulates the risk of head and neck cancer.
Hereditary Breast and Ovarian Cancer Syndrome
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
Holoprosencephaly
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Hypersensitivity
Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Functional interplay of p53 and Mus81 in DNA damage responses and cancer.
Helicase/SUMO-targeted ubiquitin ligase Uls1 interacts with the Holliday junction resolvase Yen1.
Identification and characterization of MUS81 point mutations that abolish interaction with the SLX4 scaffold protein.
Mus81-Eme1 and Rqh1 involvement in processing stalled and collapsed replication forks.
Partial suppression of the fission yeast rqh1(-) phenotype by expression of a bacterial Holliday junction resolvase.
Pathways of Resistance to Thymineless Death in Escherichia coli and the Function of UvrD.
Rad54 and Mus81 cooperation promotes DNA damage repair and restrains chromosome missegregation.
SLX-1 Is Required for Maintaining Genomic Integrity and Promoting Meiotic Noncrossovers in the Caenorhabditis elegans Germline.
TDP1 deficiency sensitizes human cells to base damage via distinct topoisomerase I and PARP mechanisms with potential applications for cancer therapy.
Infections
Analyses of spontaneous mutations of cloned gene 49 of phage T4.
Aspects of the ultraviolet photobiology of some T-even bacteriophages.
Rapid Detection of Urinary Tract Infections via Bacterial Nuclease Activity.
Repair of double-strand breaks in bacteriophage T4 by a mechanism that involves extensive DNA replication.
Repression of vaccinia virus Holliday junction resolvase inhibits processing of viral DNA into unit-length genomes.
Superiority of endocardial versus epicardial implantation of the implantable cardioverter defibrillator (ICD).
Infertility
Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression.
Differing requirements for RAD51 and DMC1 in meiotic pairing of centromeres and chromosome arms in Arabidopsis thaliana.
Infertility, Male
The rice RAD51C gene is required for the meiosis of both female and male gametocytes and the DNA repair of somatic cells.
Leukemia
BLM helicase facilitates Mus81 endonuclease activity in human cells.
PALB2 (partner and localizer of BRCA2).
The immune receptor Trem1 cooperates with diminished DNA damage response to induce preleukemic stem cell expansion.
The MUS81 endonuclease is essential for telomerase negative cell proliferation.
Lung Neoplasms
High expression of Rad51c predicts poor prognostic outcome and induces cell resistance to cisplatin and radiation in non-small cell lung cancer.
The G4 Resolvase DHX36 Possesses a Prognosis Significance and Exerts Tumour Suppressing Function Through Multiple Causal Regulations in Non-Small Cell Lung Cancer.
Lyme Disease
High-throughput screening identifies three inhibitor classes of the telomere resolvase from the lyme disease spirochete.
Identification of the determinant conferring permissive substrate usage in the telomere resolvase, ResT.
ResT, a telomere resolvase encoded by the Lyme disease spirochete.
The telomere resolvase of the Lyme disease spirochete, Borrelia burgdorferi, promotes DNA single-strand annealing and strand exchange.
Uncoupling the chemical steps of telomere resolution by ResT.
Lymphatic Metastasis
The DNA Endonuclease Mus81 Regulates ZEB1 Expression and Serves as a Target of BET4 Inhibitors in Gastric Cancer.
[Expressions of HELQ and RAD51C in endometrial stromal sarcoma and their clinical significance].
Lymphocytosis
Multifocal paraganglioma, mycosis fungoides, and monoclonal B-cell lymphocytosis in association with RAD51C mutation.
Lymphoma
Split dose recovery studies using homologous recombination deficient gene knockout chicken B lymphocyte cells.
Marfan Syndrome
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.
Muir-Torre Syndrome
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.
Mycosis Fungoides
Multifocal paraganglioma, mycosis fungoides, and monoclonal B-cell lymphocytosis in association with RAD51C mutation.
Neoplasm Metastasis
Downregulation of Mus81 as a novel prognostic biomarker for patients with colorectal carcinoma.
The DNA Endonuclease Mus81 Regulates ZEB1 Expression and Serves as a Target of BET4 Inhibitors in Gastric Cancer.
[Expressions of HELQ and RAD51C in endometrial stromal sarcoma and their clinical significance].
[The mutation and expression of MUS81 gene in laryngeal squamous cell carcinoma.]
Neoplasms
A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer.
A phase I trial of intraperitoneal GEN-1, an IL-12 plasmid formulated with PEG-PEI-cholesterol lipopolymer, administered with pegylated liposomal doxorubicin in patients with recurrent or persistent epithelial ovarian, fallopian tube or primary peritoneal cancers: An NRG Oncology/Gynecologic Oncology Group study.
Aberrant chromosome morphology in human cells defective for Holliday junction resolution.
Acute MUS81 depletion leads to replication fork slowing and a constitutive DNA damage response.
Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.
Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
Clinical significance of RAD51C and its contribution to ovarian carcinogenesis.
Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
Combined tumor sequencing and case/control analyses of RAD51C in breast cancer.
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
Computational investigation of possible inhibitors of the winged-helix domain of MUS81.
Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer.
Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression.
Decreased expression of methyl methansulfonate and ultraviolet-sensitive gene clone 81 (Mus81) is correlated with a poor prognosis in patients with hepatocellular carcinoma.
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2.
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Development of comprehensive functional genomic screens to identify novel mediators of osteoarthritis.
Differential Requirements for the RAD51 Paralogs in Genome Repair and Maintenance in Human Cells.
Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.
DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
Down-regulation of Mus81 as a potential marker for the malignancy of gastric cancer.
Downregulation of Mus81 as a novel prognostic biomarker for patients with colorectal carcinoma.
Effect of GEN1 interference on the chemosensitivity of the breast cancer MCF-7 and SKBR3 cell lines.
Effect of RAD51C expression on the chemosensitivity of E?-Myc p19Arf-/- cells and its clinical significance in breast cancer.
Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.
Estrogen induces RAD51C expression and localization to sites of DNA damage.
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
EZH2 promotes degradation of stalled replication forks by recruiting MUS81 through histone H3 trimethylation.
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Functional interplay of p53 and Mus81 in DNA damage responses and cancer.
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.
GEN-1 immunotherapy for the treatment of ovarian cancer.
GEN-1 in Combination with Neoadjuvant Chemotherapy for Patients with Advanced Epithelial Ovarian Cancer: A Phase I Dose-escalation Study.
Gene panel sequencing in familial Breast/Ovarian Cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
Germline mutations in RAD51C in Jewish high cancer risk families.
High expression of Rad51c predicts poor prognostic outcome and induces cell resistance to cisplatin and radiation in non-small cell lung cancer.
Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications.
Human MUS81: A Fence-Sitter in Cancer.
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Identification of Mitochondrial-Related Prognostic Biomarkers Associated With Primary Bile Acid Biosynthesis and Tumor Microenvironment of Hepatocellular Carcinoma.
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.
In vivo anti-tumor activity of the PARP inhibitor niraparib in homologous recombination deficient and proficient ovarian carcinoma.
Inactivation of chk2 and mus81 leads to impaired lymphocytes development, reduced genomic instability, and suppression of cancer.
Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer.
Inhibition of Mus81 by siRNA enhances sensitivity to 5-FU in breast carcinoma cell lines.
Involvement of mammalian Mus81 in genome integrity and tumor suppression.
Long-term survival of an ovarian cancer patient harboring a RAD51C missense mutation.
Loss of Rad51c accelerates tumourigenesis in sebaceous glands of Trp53-mutant mice.
Loss of Rad51c leads to embryonic lethality and modulation of Trp53-dependent tumorigenesis in mice.
Multiple genes at 17q23 undergo amplification and overexpression in breast cancer.
Mus81 knockdown improves chemosensitivity of hepatocellular carcinoma cells by inducing S-phase arrest and promoting apoptosis through CHK1 pathway.
Mus81 knockdown sensitizes colon cancer cells to chemotherapeutic drugs by activating CHK1 pathway.
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
Mutation screening of RAD51C in high-risk breast and ovarian cancer families.
New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.
Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D.
Overexpression of Rad51C splice variants in colorectal tumors.
PALB2 (partner and localizer of BRCA2).
PALB2: the hub of a network of tumor suppressors involved in DNA damage responses.
Pathology of Hereditary Breast and Ovarian Cancer.
Patterns and functional implications of rare germline variants across 12 cancer types.
Prepubertal genistein exposure affects erbB2/Akt signal and reduces rat mammary tumorigenesis.
Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
RAD51C (RAD51L2) is involved in maintaining centrosome number in mitosis.
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.
Rad51c- and Trp53-double-mutant mouse model reveals common features of homologous recombination-deficient breast cancers.
RAD51C-deficient cancer cells are highly sensitive to the poly (ADP-ribose) polymerase inhibitor, olaparib.
RAD51C: A Novel Cancer Susceptibility Gene is linked to Fanconi Anemia and Breast Cancer.
Rad51C: A novel suppressor gene modulates the risk of head and neck cancer.
Region and amino acid residues required for Rad51C binding in the human Xrcc3 protein.
Reversion Mutations with Clinical Use of PARP Inhibitors: Many Genes, Many Versions.
Sequential role of RAD51 paralog complexes in replication fork remodeling and restart.
Setting the Threshold for Surgical Prevention in Women at Increased Risk of Ovarian Cancer.
Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients.
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.
The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
The DNA Structure-Specific Endonuclease MUS81 Mediates DNA Sensor STING-Dependent Host Rejection of Prostate Cancer Cells.
The G4 Resolvase DHX36 Possesses a Prognosis Significance and Exerts Tumour Suppressing Function Through Multiple Causal Regulations in Non-Small Cell Lung Cancer.
The MUS81 endonuclease is essential for telomerase negative cell proliferation.
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
The WRN and MUS81 proteins limit cell death and genome instability following oncogene activation.
Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care.
Use of the XRCC2 promoter for in vivo cancer diagnosis and therapy.
Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients.
Utilization of Rad51C promoter for transcriptional targeting of cancer cells.
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.
[Current clinical issues and recent trends in hereditary breast and ovarian cancer in Japan-genetic testing for HBOC and risk-reducing surgery].
[Expression of Mus81 gene in Chinese Han patients with colorectal cancer and its clinical significance].
[Expressions of HELQ and RAD51C in endometrial stromal sarcoma and their clinical significance].
[New primary malignancies after breast cancer diagnosis: interplay of genetics, risk factors and treatment modalities].
Ovarian Neoplasms
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.
Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing.
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Association of RAD51C germline mutations with breast cancer among Bahamians.
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.
Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
Characterization of a RAD51C-silenced high-grade serous ovarian cancer model during development of PARP inhibitor resistance.
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
Combined tumor sequencing and case/control analyses of RAD51C in breast cancer.
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.
Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.
Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.
Estrogen induces RAD51C expression and localization to sites of DNA damage.
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.
GEN-1 immunotherapy for the treatment of ovarian cancer.
Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
Genetic testing by cancer site: ovary.
Genetic testing for RAD51C mutations: in the clinic and community.
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Germline mutation in the RAD51B gene confers predisposition to breast cancer.
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
Germline mutations in RAD51C in Jewish high cancer risk families.
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Germline RAD51C mutations confer susceptibility to ovarian cancer.
Germline RAD51C mutations in ovarian cancer susceptibility.
Hereditary ovarian cancer: beyond the usual suspects.
High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.
Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
Inhibition of MUS81 improves the chemical sensitivity of olaparib by regulating MCM2 in epithelial ovarian cancer.
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
Long-term survival of an ovarian cancer patient harboring a RAD51C missense mutation.
Loss of Rad51c accelerates tumourigenesis in sebaceous glands of Trp53-mutant mice.
Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart.
MUS81 Inhibition Increases the Sensitivity to Therapy Effect in Epithelial Ovarian Cancer via Regulating CyclinB Pathway.
MUS81 is associated with cell proliferation and cisplatin sensitivity in serous ovarian cancer.
MUS81 Participates in the Progression of Serous Ovarian Cancer Associated With Dysfunctional DNA Repair System.
Mutation analysis of RAD51L1 (RAD51B/REC2) in multiple-case, non-BRCA1/2 breast cancer families.
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
Mutation screening of RAD51C in high-risk breast and ovarian cancer families.
Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
Ovarian cancer risk assessment in the era of next-generation sequencing.
Pathologic Findings in Breast, Fallopian Tube and Ovary Specimens in non-BRCA Hereditary Breast and/or Ovarian Cancer Syndromes: A Study of 18 Patients with Deleterious Germline Mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH or CHEK2.
Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.
RAD-ical New Insights into RAD51 Regulation.
RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.
RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families.
RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
RAD51C germline mutations in breast and ovarian cancer cases from high-risk families.
RAD51C germline mutations in breast and ovarian cancer patients.
RAD51C is a susceptibility gene for ovarian cancer.
RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.
RAD51C: A Novel Cancer Susceptibility Gene is linked to Fanconi Anemia and Breast Cancer.
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients.
Screening of HELQ in breast and ovarian cancer families.
Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer.
Single nucleotide polymorphisms in noncoding regions of Rad51C do not change the risk of unselected breast cancer but they modulate the level of oxidative stress and the DNA damage characteristics: a case-control study.
Sulfolobus tokodaii RadA paralog, stRadC2, is involved in DNA recombination via interaction with RadA and Hjc.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Targeting BRCA1- and BRCA2-deficient cells with RAD52 small molecule inhibitors.
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.
Pancreatic Neoplasms
Exceptional response to FOLFIRINOX in a patient with pancreatic cancer and a germline RAD51C mutation.
Paraganglioma
Multifocal paraganglioma, mycosis fungoides, and monoclonal B-cell lymphocytosis in association with RAD51C mutation.
Photophobia
Evolution of a phage RuvC endonuclease for resolution of both Holliday and branched DNA junctions.
Prostatic Neoplasms
Metastatic Prostate Cancer in a RAD51C Mutation Carrier.
The DNA Structure-Specific Endonuclease MUS81 Mediates DNA Sensor STING-Dependent Host Rejection of Prostate Cancer Cells.
Relapsing Fever
Identification of the determinant conferring permissive substrate usage in the telomere resolvase, ResT.
Sarcoma
Functional interplay of p53 and Mus81 in DNA damage responses and cancer.
[Expressions of HELQ and RAD51C in endometrial stromal sarcoma and their clinical significance].
Sarcoma, Endometrial Stromal
[Expressions of HELQ and RAD51C in endometrial stromal sarcoma and their clinical significance].
Squamous Cell Carcinoma of Head and Neck
[The mutation and expression of MUS81 gene in laryngeal squamous cell carcinoma.]
Starvation
Damage tolerance protein Mus81 associates with the FHA1 domain of checkpoint kinase Cds1.
[Effect of mutations for the ruvABC genes on recombination between direct DNA repairs in Escherichia coli strains carrying extended tandem duplication]
Stomach Neoplasms
Down-regulation of Mus81 as a potential marker for the malignancy of gastric cancer.
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
RAD51C-deficient cancer cells are highly sensitive to the poly (ADP-ribose) polymerase inhibitor, olaparib.
The DNA Endonuclease Mus81 Regulates ZEB1 Expression and Serves as a Target of BET4 Inhibitors in Gastric Cancer.
Thyroid Neoplasms
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Triple Negative Breast Neoplasms
A Population-Based Study of Genes Previously Implicated in Breast Cancer.
Trisomy 13 Syndrome
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Tuberculosis
Mycobacterium tuberculosis RuvX is a Holliday junction resolvase formed by dimerisation of the monomeric YqgF nuclease domain.
Novel insights into ATP-Stimulated Cleavage of branched DNA and RNA Substrates through Structure-Guided Studies of the Holliday Junction Resolvase RuvX.
Urinary Bladder Neoplasms
Multi-omics Perspective on the Tumor Microenvironment based on PD-L1 and CD8 T-Cell Infiltration in Urothelial Cancer.
Urinary Tract Infections
Rapid Detection of Urinary Tract Infections via Bacterial Nuclease Activity.
Vaccinia
Bacterial-type DNA holliday junction resolvases in eukaryotic viruses.
DNA binding and cleavage by the fowlpox virus resolvase.
DNA branch nuclease activity of vaccinia A22 resolvase.
DNA cleavage by the A22R resolvase of vaccinia virus.
Repression of vaccinia virus Holliday junction resolvase inhibits processing of viral DNA into unit-length genomes.
Resolution of a Holliday junction by vaccinia topoisomerase requires a spacer DNA segment 3' of the CCCTT/ cleavage sites.
Xeroderma Pigmentosum
MUS81 is associated with cell proliferation and cisplatin sensitivity in serous ovarian cancer.