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New Germline TP53 Variant Detected After Radiotherapy-Induced Angiosarcoma of the Chest Wall in a Previously Treated Breast Cancer Patient: A Case Report and Review of Li-Fraumeni Syndrome and Radiotherapy-Induced Sarcoma.
Case Rep Oncol Med
December 2024
Pathology Department, Oncoclinicas Group, São Paulo, Brazil.
Li-Fraumeni syndrome (LFS) is one of the most common hereditary cancer predisposition syndromes in Brazil. The high frequency of the syndrome is due to a founding variant (R337H) in the country. LFS is characterized by a wide variety of malignant phenotypes.
View Article and Find Full Text PDFTP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.
J Natl Cancer Inst
December 2024
Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.
Pathogenic TP53 germline variants cause young-onset breast cancer and other cancers of the Li-Fraumeni syndrome (LFS) spectrum, but the clinical consequences of partial-loss-of function TP53 variants are incompletely understood. In the consecutive cohort of Palestinian breast cancer patients of the Middle East Breast Cancer Study (MEBCS), breast cancer risk among TP53 p. R181C heterozygotes was 50% by age 50 y and 81% by age 80 y.
View Article and Find Full Text PDF[Research progress on pathogenic germline mutations in malignant tumors].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin 300380, China.
Malignant tumors are closely related to various genetic and environmental factors. Pathogenic germline gene mutations play a key role in the occurrence and development of some malignant tumors. Some germline mutations can increase the risk of malignant tumors.
View Article and Find Full Text PDFtp53 R217H and R242H mutant zebrafish exhibit dysfunctional p53 hallmarks and recapitulate Li-Fraumeni syndrome phenotypes.
Biochim Biophys Acta Mol Basis Dis
December 2024
Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada. Electronic address:
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with a highly penetrant cancer spectrum characterized by germline TP53 mutations. We characterized the first LFS zebrafish hotspot mutants, tp53 R217H and R242H (human R248H and R273H), and found these mutants exhibit partial-to-no activation of p53 target genes, have defective cell-cycle checkpoints, and display partial-to-full resistance to apoptosis, although the R217H mutation has hypomorphic characteristics. Spontaneous tumor development histologically resembling human sarcomas was observed as early as 6 months.
View Article and Find Full Text PDFClustering of variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
iScience
December 2024
University Grenoble Alpes, Inserm 1209, CNRS 5309, Institute for Advanced Biosciences, F38000 Grenoble, France.
Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to an individually variable spectrum of cancers caused by pathogenic germline variants. We used a clustering method to assign TP53 missense variants to classes based on their functional activities in experimental assays assessing biological p53 functions. Correlations with LFS phenotypes were analyzed using the public germline mutation database and validated in three LFS clinical cohorts.
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