Associated Papers
Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.
Börcsök J et al.
The Journal of Clinical Investigation, 2025
TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.
Kim HY et al.
Annals of Laboratory Medicine, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.
Kawamura M et al.
Journal of Human Genetics, 2023
NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.
Ramakrishnan G et al.
Cell Reports, 2022
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.
Daniels EG et al.
Cold Spring Harbor Molecular Case Studies, 2019
Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil.
Cipriano NM et al.
Breast Cancer (tokyo, Japan), 2019
A Massively Parallel Fluorescence Assay to Characterize the Effects of Synonymous Mutations on TP53 Expression.
Bhagavatula G et al.
Molecular Cancer Research : Mcr, 2017
Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.
Li C et al.
Scientific Reports, 2015
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D et al.
Blood Cells, Molecules & Diseases, 2012
IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors.
Mellai M et al.
Journal of Neuro-oncology, 2011
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
p73 or p53 directly regulates human p53 transcription to maintain cell cycle checkpoints.
Wang S et al.
Cancer Research, 2006