Associated Papers
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Effect of C-to-T transition at CpG sites on tumor suppressor genes in tumor development in cattle evaluated by somatic mutation analysis in enzootic bovine leukosis.
Nishimori A et al.
Msphere, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases.
Erdogdu IH et al.
Journal of Personalized Medicine, 2024
Immunohistochemical findings and clinicopathological features of breast cancers with pathogenic germline mutations in Non-BRCA genes.
Singh K et al.
Human Pathology, 2024
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.
Bouras A et al.
Cancers, 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
Validation and clinical application of transactivation assays for RUNX1 variant classification.
Decker M et al.
Blood Advances, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Identification and clinical significance of somatic oncogenic mutations in epithelial ovarian cancer.
Watanabe T et al.
Journal of Ovarian Research, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.
Lim Y et al.
Scientific Reports, 2021
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Doffe F et al.
Cell Death and Differentiation, 2021
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.
Wei L et al.
Science Advances, 2021
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
Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2.
Gardner HL et al.
Communications Biology, 2019
Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.
Wong CW et al.
Autism Research : Official Journal of the International Society for Autism Research, 2018
Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.
Li G et al.
Plos One, 2018
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
Hereditary diffuse gastric cancer.
Schrader K et al.
Cancer Treatment and Research, 2010
Genetic screening for hereditary diffuse gastric cancer.
Oliveira C et al.
Expert Review of Molecular Diagnostics, 2003
Function, oligomerization, and conformation of tumor-associated p53 proteins with mutated C-terminus.
Atz J et al.
Journal of Cellular Biochemistry, 2000