Associated Papers
Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.
Johansson PA et al.
The Journal of Investigative Dermatology, 2026
Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Pal T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.
Krückel A et al.
Archives of Gynecology and Obstetrics, 2026
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.
Zhang H et al.
International Journal of Cancer, 2025
ATM inhibitors in cancer radiotherapy: Mechanisms, clinical development, and future directions.
Al-Zoubi RM et al.
European Journal of Medicinal Chemistry, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Functional assessment of all ATM SNVs using prime editing and deep learning.
Lee KS et al.
Cell, 2025
Associations between ATM c.7271T>G and cancer risk: analysis of Breast Cancer Association Consortium and UK Biobank data.
Mukhtar TK et al.
Journal of Medical Genetics, 2025
Association of gene variant type and location with breast cancer risk in the general population.
Akamandisa MP et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.
Thorvaldsdottir B et al.
Leukemia, 2025
Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework.
Hanenberg H et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.
Goidescu IG et al.
International Journal of Molecular Sciences, 2025
Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action.
Weber E et al.
Current Oncology (toronto, Ont.), 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
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.
Viart NM et al.
Breast Cancer Research : Bcr, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.
Osler TS et al.
Cancer Medicine, 2025
Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.
Magnarelli A et al.
The Journal of Allergy and Clinical Immunology, 2025
Small molecule ATM inhibitors as potential cancer therapy: a patent review (2003-present).
Ivanenkov YA et al.
Expert Opinion on Therapeutic Patents, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Sabbagh Q et al.
Journal of Neurology, 2025
Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies.
Manna EDF et al.
Genes, 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
Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women.
Jahangiri S et al.
Breast Cancer Research and Treatment, 2025
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Pal T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.
Kerr SM et al.
European Journal of Human Genetics : Ejhg, 2024
Breast cancer and ATM mutations: treatment implications.
Seca M et al.
Hereditary Cancer in Clinical Practice, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
American Journal of Human Genetics, 2024
Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population.
Akamandisa MP et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Understanding genetic variations associated with familial breast cancer.
Pal M et al.
World Journal of Surgical Oncology, 2024
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study.
Oyler HO et al.
Clinical Genetics, 2024
Prevention, diagnosis and clinical management of hereditary breast cancer beyond BRCA1/2 genes.
Calabrese A et al.
Cancer Treatment Reviews, 2024
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2.
Fabi A et al.
Critical Reviews in Oncology/hematology, 2024
Public neoantigens in breast cancer immunotherapy (Review).
Sueangoen N et al.
International Journal of Molecular Medicine, 2024
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre.
Evans DG et al.
Familial Cancer, 2024
Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.
Franco PI et al.
Jco Global Oncology, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
McDevitt T et al.
European Journal of Human Genetics : Ejhg, 2024
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
Role of Breast Cancer Risk Estimation Models to Identify Women Eligible for Genetic Testing and Risk-Reducing Surgery.
Irelli A et al.
Biomedicines, 2024
Variant ataxia telangiectasia identified during evaluation for short stature.
Sokay A et al.
Bmj Case Reports, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
Barili V et al.
Genes, 2024