Li-Fraumeni WGS
Ontology highlight
ABSTRACT:
PROVIDER: PRJEB13761 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Whole Exome sequencing of two patients with Cardiac angiosarcoma in Li-Fraumeni-like families discovers that a mutation in the pot1 gene is responsible for cardiac angiosarcoma in tp53-negative li-fraumeni-like families
2015-09-14 | E-MTAB-3858 | biostudies-arrayexpress
Project description:Multiple family members with cancer or individuals with multiple primary cancers are indicative of potential genetic etiology1. Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li Fraumeni Syndrome (LFS)2. We identified a TP53 tetramerization domain (TD) missense mutation c.1000G>C;p.G334R, in a family with LFS-associated cancers. Twenty-one additional probands were identified, and available tumors showed biallelic somatic inactivation of TP53. The majority of families were of Ashkenazi Jewish descent, and the TP53 c.1000G>C allele was found on a commonly inherited haplotype. While classical p53 target gene activation was maintained in p.G334R mutant cell lines treated with Nutlin-3a, a subset of p53 target genes, including PCLO, PLTP, PLXNB3 and LCN15, showed defective transactivation. Structural analysis demonstrated thermal instability of the mutant TD, and the G334R mutant protein showed increased preponderance of mutant conformation protein. TP53 c.1000G>C;p.G334R is a rare AJ-predominant mutation associated with low penetrance Li-Fraumeni Syndrome
2020-07-24 | GSE143741 | GEO
Project description:5 rats were offered food containing 40mM Li/Kg dry weight for 4 weeks, and 5 control rats obtained standard food. The RNA from the inner medulla of the Li-treated rats was labeled red (channel 1), and from the control rats labeled green (channel 2). The samples from Li-treated rats 1+2 and control rats 1+2 were hybridized to array Li-NDI 1. The samples from Li-treated rats 3+4 and control rats 3+4 were hybridized to array Li-NDI 2. The samples from Li-treated rat 5 and control rat 5 were hybridized to array Li-NDI 3. Keywords: parallel sample
2004-09-01 | GSE1341 | GEO
Project description:5 rats were offered food containing 40mM Li/Kg dry weight for 4 weeks, and 5 control rats obtained standard food. The RNA from the inner medulla of the Li-treated rats was labeled red (channel 1), and from the control rats labeled green (channel 2). The samples from Li-treated rats 1+2 and control rats 1+2 were hybridized to array Li-NDI 1. The samples from Li-treated rats 3+4 and control rats 3+4 were hybridized to array Li-NDI 2. The samples from Li-treated rat 5 and control rat 5 were hybridized to array Li-NDI 3.
2004-09-01 | E-GEOD-1341 | biostudies-arrayexpress
Project description:Li-Fraumeni syndrome (LFS) is a rare, clinically and genetically heterogeneous inherited cancer syndrome. Most cases are due to mutations in TP53. CHK2 is a minor predisposing locus; we recently mapped a third locus to 1q23. In both TP53 and non-TP53 LFS, there is evidence for risk heterogeneity within and between kindreds, suggesting additional risk modifiers. Using BAC- and SNP-based microarrays, we performed genomic profiling of primary soft tissue sarcomas, osteosarcomas and matching constitutive samples of 10 LFS patients (6 with and 4 without TP53 mutations), to identify genome-wide patterns of copy number changes and loss-of-heterozygosity (LOH). Our complementing global approaches revealed several interesting patterns for TP53 and non-TP53 LFS tumors, including positive (1q/7, 3p/15, 4q/9q, 8q/19p, 9p/10q, 13/14 and 15q/18q) and negative (2q/9q, 3q/14q and 4q/6q) associations between chromosomal regions. The region containing the oncogene TWIST1 (7p21.1) was the most common gain independent of TP53 status and tumor type, while LOH of 8q11.2 with the tumor suppressor ST18 was the only region exclusively associated with non-TP53 soft tissue sarcomas. We resequenced known mutations in BRAF, KRAS and NRAS and identified somatic NRAS mutations in 2 of 10 tumors. TP53 and non-TP53 LFS tumors shared multiple hits in genes of the p53 and overlapping pathways. Although common dogma in cancer genetics holds that multiple hits in the same pathway are redundant and thus unlikely, we show that different combinations of genetic alterations in both TP53 and non-TP53 LFS tumors appear to act together in the p53 network in LFS tumorigenesis Keywords: Comparative genomic hybridization Using the Spectral Genomics dye-swap BAC arrays we studied 10 Li Fraumeni syndrome tumor cases
2008-07-16 | E-GEOD-8798 | biostudies-arrayexpress
Project description:RNA-seq from bulk liver was performed for wild-type, Li-TSC1KO and Li-TSC1KO RagAGTP livers.
2024-01-12 | GSE225265 | GEO