Publications by authors named "Jodi Lees"
Article Synopsis
- The study aims to improve the diagnosis of Mismatch Repair Deficiency (MMRD), which is important for managing tumors and early detection in individuals with constitutional mismatch repair deficiency (CMMRD).
- Researchers developed a new assay called the Low-pass Genomic Instability Characterization (LOGIC) to detect MMRD and compared its performance with existing diagnostic methods.
- LOGIC demonstrated 100% sensitivity and specificity in detecting MMRD in childhood cancers, outperforming other tests and showing potential for better cancer management and tailored surveillance for patients with CMMRD.
TP53 missense mutations leading to the expression of mutant p53 oncoproteins are frequent driver events during tumorigenesis. p53 mutants promote tumor growth, metastasis and chemoresistance by affecting fundamental cellular pathways and functions. Here, we demonstrate that p53 mutants modify structure and function of the Golgi apparatus, culminating in the increased release of a pro-malignant secretome by tumor cells and primary fibroblasts from patients with Li-Fraumeni cancer predisposition syndrome.
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- In childhood brain tumors, the alternative lengthening of telomeres (ALT) is found primarily in malignant cases, with significant prevalence in specific tumor types like primitive neuroectodermal tumors and high-grade gliomas.
- The presence of somatic TP53 mutations is strongly linked to ALT, while only ATRX mutations show a moderate association.
- ALT appears to improve survival rates in pediatric patients with TP53 mutant gliomas and choroid plexus carcinomas, suggesting its potential role in influencing treatment outcomes and informing risk stratification.
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome frequently associated with germ line TP53 mutations. Unpredictable and disparate age of cancer onset is a major challenge in the management of LFS. Genetic modifiers, including the MDM2-SNP309 polymorphism, and genetic anticipation have been suggested as plausible explanations for young age of tumor onset, but the molecular mechanisms for these observations are unknown.
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