Associated Papers
Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.
Chamova T et al.
Genes, 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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Nones K et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2019
Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
Suszynska M et al.
Gynecologic Oncology, 2019
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault AL et al.
Breast Cancer Research : Bcr, 2018
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
Li J et al.
Journal of Medical Genetics, 2016
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N et al.
Human Molecular Genetics, 1999
Select a paper to view details