Associated Papers
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C et al.
Genome Medicine, 2025
Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.
Oak N et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.
Louis J et al.
Journal of Medical Genetics, 2025
Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.
Sinan H et al.
Jco Precision Oncology, 2025
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
Zuntini R et al.
International Journal of Molecular Sciences, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.
Liao Y et al.
Cancer Medicine, 2019
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.
Diederichs S et al.
Embo Molecular Medicine, 2016
Genomic landscape of paediatric adrenocortical tumours.
Pinto EM et al.
Nature Communications, 2015
Pediatric adrenocortical tumors: diagnosis, management and advancements in the understanding of the genetic basis and therapeutic implications.
Antonini SR et al.
Expert Review of Endocrinology & Metabolism, 2014
Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome.
Piao J et al.
Molecular Carcinogenesis, 2013
SNP array profiling of childhood adrenocortical tumors reveals distinct pathways of tumorigenesis and highlights candidate driver genes.
Letouzé E et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.
Pinto EM et al.
Familial Cancer, 2011
A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.
Tao H et al.
Carcinogenesis, 2004