Associated Papers
Malignant adenomyoepithelioma with HRAS G13R mutation: A case report.
Kuwabara H et al.
Oncology Letters, 2026
Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients.
Onyia AF et al.
Cancer Genetics, 2026
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Deciphering DNA repair gene mutational landscape in uterine corpus endometrial carcinoma patients using next generation sequencing.
Lou J et al.
American Journal of Cancer Research, 2024
DegronMD: Leveraging Evolutionary and Structural Features for Deciphering Protein-Targeted Degradation, Mutations, and Drug Response to Degrons.
Xu H et al.
Molecular Biology and Evolution, 2023
Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies.
Aktas T et al.
Frontiers in Bioscience (landmark Edition), 2023
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.
Lim Y et al.
Scientific Reports, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Comparing cell-free circulating tumor DNA mutational profiles of disease-free and nonresponders patients with oropharyngeal squamous cell carcinoma.
Khandelwal AR et al.
Laryngoscope Investigative Otolaryngology, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Adenomyoepitheliomas of the Breast Frequently Harbor Recurrent Hotspot Mutations in PIK3-AKT Pathway-related Genes and a Subset Show Genetic Similarity to Salivary Gland Epithelial-Myoepithelial Carcinoma.
Lubin D et al.
The American Journal of Surgical Pathology, 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
Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.
Dehghani M et al.
Frontiers in Molecular Biosciences, 2019
Cancer genes mutation profiling in calcifying epithelial odontogenic tumour.
de Sousa SF et al.
Journal of Clinical Pathology, 2018
The Wnt/β-catenin pathway is deregulated in cemento-ossifying fibromas.
Pereira TDSF et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Colonic organoids derived from human induced pluripotent stem cells for modeling colorectal cancer and drug testing.
Crespo M et al.
Nature Medicine, 2017
Targeted next-generation sequencing detects a high frequency of potentially actionable mutations in metastatic breast cancers.
Muller KE et al.
Experimental and Molecular Pathology, 2016
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
An informatics approach to analyzing the incidentalome.
Berg JS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Minde DP et al.
Molecular Cancer, 2011
Prioritization of candidate SNPs in colon cancer using bioinformatics tools: an alternative approach for a cancer biologist.
George Priya Doss C et al.
Interdisciplinary Sciences, Computational Life Sciences, 2010
Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk.
Wong HL et al.
European Journal of Cancer (oxford, England : 1990), 2010
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.
Azzopardi D et al.
Cancer Research, 2008