Associated Papers
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
Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.
de Amorim IFG et al.
Plos One, 2025
Severe Radiation-Induced Brachial Plexopathy: A Case Report on Radiation Toxicity in a Patient With Invasive Ductal Carcinoma.
Waeldner K et al.
Cureus, 2024
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson BL et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 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
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 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
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.
Bishop MR et al.
Plos One, 2019
ATM in breast and brain tumors: a comprehensive review.
Estiar MA et al.
Cancer Biology & Medicine, 2018
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
Use of panel tests in place of single gene tests in the cancer genetics clinic.
Yorczyk A et al.
Clinical Genetics, 2015
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
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
Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.
Teraoka SN et al.
Cancer, 2001