Associated Papers
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 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
Hepatic adenomas in males: Is molecular characterization helpful in guiding its management?
Jain E et al.
Human Pathology, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
Low-burden TP53 mutations represent frequent genetic events in CLL with an increased risk for treatment initiation.
László T et al.
The Journal of Pathology. Clinical Research, 2024
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.
Zakaria NH et al.
Human Genomics, 2023
Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing.
Adamska M et al.
Contemporary Oncology (poznan, Poland), 2023
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review.
Irshaid L et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2022
Novel targetable FGFR2 and FGFR3 alterations in glioblastoma associate with aggressive phenotype and distinct gene expression programs.
Georgescu MM et al.
Acta Neuropathologica Communications, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
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
Clinical implications of subclonal TP53 mutations in acute myeloid leukemia.
Prochazka KT et al.
Haematologica, 2019
TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.
Hou HA et al.
Blood Cancer Journal, 2015
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.
Seal S et al.
Nature Genetics, 2006
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.
Seal S et al.
Cancer Research, 2003
Emergence of genetic instability in children treated for leukemia.
Finette BA et al.
Science (new York, N.y.), 2000
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
Kivirikko S et al.
Human Molecular Genetics, 1996