Associated Papers
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.
Billaud A et al.
Breast (edinburgh, Scotland), 2025
Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma.
Mui L et al.
Genes, 2025
Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility, and gonadal failure.
Nynäs E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.
Nierenberg JL et al.
Nature Communications, 2025
Comprehensive genetic and epigenetic characterization of Lynch-like syndrome patients.
Pirini F et al.
International Journal of Cancer, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Homozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.
Sulkava S et al.
Cancer Reports (hoboken, N.j.), 2025
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
Ul Haq S et al.
Hgg Advances, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.
Lahtinen AK et al.
British Journal of Haematology, 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Population-based study of recurrent DNA damage response gene variants in breast cancer cases.
Tervasmäki A et al.
Breast Cancer Research and Treatment, 2025
Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency.
Allen-Brady K et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.
Kokemüller L et al.
International Journal of Cancer, 2025
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
Significantly increased load of hereditary cancer-linked germline variants in infertile men.
Valkna A et al.
Human Reproduction Open, 2025
Multilocus inherited neoplasia allele syndrome (MINAS) in a Turkish cohort: molecular insights and clinical relevance for precision oncology.
Bahsi T et al.
Frontiers in Pharmacology, 2025
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.
Fluhler H et al.
Genetics in Medicine Open, 2025
PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.
Miao R et al.
Cancers, 2024
Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.
Kurkilahti V et al.
Cancers, 2024
Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.
Culliford R et al.
Nature Communications, 2024
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K et al.
American Journal of Human Genetics, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B et al.
The Lancet Regional Health. Europe, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Angioimmunoblastic T-cell lymphoma: Novel recurrent mutations and prognostic biomarkers by cell-free DNA profiling.
Zhang C et al.
British Journal of Haematology, 2023
A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer.
Zhu QY et al.
Journal of Cancer Research and Clinical Oncology, 2023
Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature.
Ng JY et al.
British Journal of Haematology, 2023
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotype.
Fettke H et al.
Ebiomedicine, 2023
Functional Homologous Recombination Assay on FFPE Specimens of Advanced High-Grade Serous Ovarian Cancer Predicts Clinical Outcomes.
Pikkusaari S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 2023
Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.
Herold N et al.
Cancer Medicine, 2023
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.
Figlioli G et al.
Cancers, 2023
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
Figlioli G et al.
European Journal of Human Genetics : Ejhg, 2023
Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.
Ozturk S
Cell Cycle (georgetown, Tex.), 2023
Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis.
Dal Buono A et al.
Cancers, 2023
Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.
Morales-Pison S et al.
International Journal of Molecular Sciences, 2023
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.
Lim BWX et al.
Journal of the National Cancer Institute, 2023
Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.
Nierenberg JL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023