Transcriptomics

Dataset Information

301

Whole Exome sequencing of two patients with Cardiac angiosarcoma in Li-Fraumeni-like families.


ABSTRACT: 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

INSTRUMENT(S): Illumina Genome Analyzer II

ORGANISM(S): Homo sapiens  

SUBMITTER: Oriol Calvete  

PROVIDER: E-MTAB-3858 | ArrayExpress | 2015-09-14

SECONDARY ACCESSION(S): ERP011955

REPOSITORIES: ArrayExpress, ENA

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Publications


Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53-negative Li-Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. The same gene alteration is found in two other LFL families with CAS, supporting the causal effect of the identified mutation. We extend the analysis to TP53-negative LFL families with no CAS and find the  ...[more]

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