Associated Papers
Predictive genomic medicine enlarges the spectrum of predisposing mutations for head and neck cancers via a panel of 56 genes selected for human neoplasia in Southern Italy: a pilot study.
Di Maggio F et al.
Clinical Chemistry and Laboratory Medicine, 2026
Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
Iyevleva AG et al.
International Journal of Molecular Sciences, 2025
Accuracy of direct mutation testing by TaqMan quantitative polymerase chain reaction for preimplantation genetic diagnosis of recurrent de novo mutations.
Garro D et al.
Fertility and Sterility, 2025
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.
Podgrajsek R et al.
The World Journal of Men's Health, 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
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
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.
Cabral PL et al.
Jco Precision Oncology, 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
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Structural basis of Fanconi anemia pathway activation by FANCM.
Bythell-Douglas R et al.
The Embo Journal, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.
Lahtinen AK et al.
British Journal of Haematology, 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
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.
Zheng Y et al.
International Journal of Cancer, 2025
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
Subramanian DN et al.
Npj Genomic Medicine, 2025
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
FANCM branchpoint translocase: Master of traverse, reverse and adverse DNA repair.
Abbouche L et al.
Dna Repair, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
Research progress on the fanconi anemia signaling pathway in non-obstructive azoospermia.
Xu H et al.
Frontiers in Endocrinology, 2024
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
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 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
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 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
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 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
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK et al.
Bone Marrow Transplantation, 2023
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L et al.
Nature Communications, 2022
Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
Nurmi AK et al.
Cancers, 2022
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
Poliani L et al.
Esmo Open, 2022