ID
45530
Descrição
Principal Investigator: Priscilla Brastianos, Broad Institute, Cambridge, MA, USA MeSH: Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000730 Brain metastases are the most frequently occurring intracranial tumors in adults. Median survival after the diagnosis of a brain metastasis is in the order of a few months. Despite its large burden of disease and devastating clinical sequelae, we continue to have a limited understanding of the molecular mechanisms driving brain metastasis. We subjected 86 trios consisting of primary tumor, brain metastasis, and matched normal tissue to whole exome sequencing (WES). To analyze the data, we developed novel computational tools to perform an integrative analysis of somatic single nucleotide variants (SSNVs) and somatic copy-number alterations (SCNAs). This analysis allowed us to estimate the clonal architecture of the primary and metastatic samples of each patient, and to reconstruct a phylogenetic tree relating all of the subclones.
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- 28/12/2022 28/12/2022 - Simon Heim
Titular dos direitos
Priscilla Brastianos, Broad Institute, Cambridge, MA, USA
Transferido a
28 de dezembro de 2022
DOI
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Licença
Creative Commons BY 4.0
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