Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Germline homologous recombination repair (gHRR) variants in bladder cancer: Preliminary evidence and clinical implications.
Hurle R et al.
Bjui Compass, 2025
Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
Vietri MT et al.
International Journal of Molecular Sciences, 2025
NBS1 facilitates preribosomal RNA biogenesis.
Luo M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
Prediction of deleterious non-synonymous SNPs of human MDC1 gene: an in silico approach.
Thote V et al.
Systems Biology in Reproductive Medicine, 2024
Understanding genetic variations associated with familial breast cancer.
Pal M et al.
World Journal of Surgical Oncology, 2024
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Germline variants in early and late-onset Brazilian prostate cancer patients.
Coelho KBCA et al.
Urologic Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
ATR inhibition using gartisertib enhances cell death and synergises with temozolomide and radiation in patient-derived glioblastoma cell lines.
Lozinski M et al.
Oncotarget, 2024
Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.
Bruedigam C et al.
Nature Cancer, 2024
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.
Alonso-Luna O et al.
Molecular Genetics & Genomic Medicine, 2024
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Chrysafi P et al.
Cancers, 2023
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 2023
Germline Genetic NBN Variation and Predisposition to B-cell Acute Lymphoblastic Leukemia in Children.
Escherich C et al.
Research Square, 2023
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.
Otahalova B et al.
International Journal of Molecular Sciences, 2023
NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.
Belhadj S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K et al.
Reproductive Biology and Endocrinology : Rb&e, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Emelyanova M et al.
Therapeutic Advances in Medical Oncology, 2022
Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.
Megid TBC et al.
Frontiers in Oncology, 2022
Hereditary variants of unknown significance in African American women with breast cancer.
McDonald JT et al.
Plos One, 2022
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
Helgadottir HT et al.
Scientific Reports, 2021
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C et al.
International Journal of Molecular Sciences, 2021
The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.
Fierheller CT et al.
Cancers, 2021
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
Zuntini R et al.
International Journal of Molecular Sciences, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells.
McPherson MT et al.
Cancers, 2020
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
Rahman S et al.
Cells, 2020
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.
Fiévet A et al.
Human Mutation, 2020
Applied precision medicine in metastatic pancreatic ductal adenocarcinoma.
Taghizadeh H et al.
Therapeutic Advances in Medical Oncology, 2020
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E et al.
Plos One, 2020