Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
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
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision 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
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies.
Aktas T et al.
Frontiers in Bioscience (landmark Edition), 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Zimmermann MT et al.
Frontiers in Oncology, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH et al.
Plos One, 2021
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
ATM in breast and brain tumors: a comprehensive review.
Estiar MA et al.
Cancer Biology & Medicine, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.
Izquierdo E et al.
Oncotarget, 2017
ATM mutations and E-cadherin expression define sensitivity to EGFR-targeted therapy in colorectal cancer.
Geißler AL et al.
Oncotarget, 2017
Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study.
Nair N et al.
Plos Medicine, 2016
ATM gene mutations in sporadic breast cancer patients from Brazil.
Mangone FR et al.
Springerplus, 2015
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
George Priya Doss C et al.
Plos One, 2012
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
Austen B et al.
British Journal of Haematology, 2008
Screening for ATM sequence alterations in African-American women diagnosed with breast cancer.
Hirsch AE et al.
Breast Cancer Research and Treatment, 2008
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
Broeks A et al.
Breast Cancer Research and Treatment, 2008
Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy.
Ho AY et al.
International Journal of Radiation Oncology, Biology, Physics, 2007
A genetically determined dose-volume histogram predicts for rectal bleeding among patients treated with prostate brachytherapy.
Cesaretti JA et al.
International Journal of Radiation Oncology, Biology, Physics, 2007
ATM sequence variants and risk of radiation-induced subcutaneous fibrosis after postmastectomy radiotherapy.
Andreassen CN et al.
International Journal of Radiation Oncology, Biology, Physics, 2006
ATM sequence variants are predictive of adverse radiotherapy response among patients treated for prostate cancer.
Cesaretti JA et al.
International Journal of Radiation Oncology, Biology, Physics, 2005
ATM missense mutations are frequent in patients with breast cancer.
Sommer SS et al.
Cancer Genetics and Cytogenetics, 2003
Absence of somatic ATM missense mutations in 58 mammary carcinomas.
Feng J et al.
Cancer Genetics and Cytogenetics, 2003
ATM gene alterations in childhood acute lymphoblastic leukemias.
Gumy Pause F et al.
Human Mutation, 2003
Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.
Sommer SS et al.
Cancer Genetics and Cytogenetics, 2002
Involvement of ATM missense variants and mutations in a series of unselected breast cancer cases.
Rodriguez C et al.
Genes, Chromosomes & Cancer, 2002