Genomes and Genes
Affiliation: Massachusetts General Hospital
- Intramedullary neuroma of the cervicomedullary junction. Case reportSandro Santagata
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02130, USA
J Neurosurg Spine 5:362-6. 2006..This case may represent the first true traumatic intramedullary neuroma of the CMJ diagnosed in a living patient and treated surgically...
- BRAF V600E mutations are common in pleomorphic xanthoastrocytoma: diagnostic and therapeutic implicationsDora Dias-Santagata
Department of Pathology and Center for Cancer Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
PLoS ONE 6:e17948. 2011..1%) giant cell GBM (gcGBM). The finding that BRAF V600E mutations are common in the majority of PXA has important therapeutic implications and may help in differentiating less aggressive PXAs from lethal gcGBMs and GBMs...
- Tight coordination of protein translation and HSF1 activation supports the anabolic malignant stateSandro Santagata
Department of Pathology, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA 02215, USA
Science 341:1238303. 2013....
- CRX is a diagnostic marker of retinal and pineal lineage tumorsSandro Santagata
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts, United States of America
PLoS ONE 4:e7932. 2009..To determine the biologic and diagnostic potential of CRX in human tumors of the retina and pineal, we examined its expression in multiple settings...
- Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1Lori A Ramkissoon
Departments of Medical Oncology, Cancer Biology, and Pediatric Oncology, Center for Cancer Genome Discovery, and Center for Molecular Oncologic Pathology, Dana Farber Cancer Institute, Boston, MA 02115
Proc Natl Acad Sci U S A 110:8188-93. 2013..Our results define clinically relevant molecular subclasses of diffuse PLGGs and highlight a potential role for the MYB family in the biology of low-grade gliomas...
- DNA fragmentation simulation method (FSM) and fragment size matching improve aCGH performance of FFPE tissuesJustin M Craig
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, United States of America
PLoS ONE 7:e38881. 2012..This study demonstrates that rigorous control of DNA fragment size improves aCGH performance. This methodological advance will permit the routine analysis of FFPE tumor samples for clinical trials and in daily clinical practice...
- Using the heat-shock response to discover anticancer compounds that target protein homeostasisSandro Santagata
Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, United States
ACS Chem Biol 7:340-9. 2012..From a chemical biology perspective, they define a robust approach for discovering candidate compounds that target the malignant phenotype by disrupting protein homeostasis...
- Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomasYongji Tian
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, MA 02215, USA
J Mol Diagn 13:669-77. 2011..These results show that fusion transcripts and mutations can be detected reliably in standard FFPE specimens and may be useful for incorporation into future studies of pediatric gliomas in basic science or clinical trials...
- Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutationsPriscilla K Brastianos
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA
Nat Genet 45:285-9. 2013..These mutations were present in therapeutically challenging tumors of the skull base and higher grade. These results begin to define the spectrum of genetic alterations in meningiomas and identify potential therapeutic targets...
- Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA contentCoren A Milbury
Department of Radiation Oncology, Dana Farber Brigham and Women s Cancer Center, Harvard Medical School, Boston, Massachusetts 02115, USA
J Mol Diagn 13:220-32. 2011..In summary, we demonstrate an efficient approach to increase screening capabilities from limited DNA material via multiplex-PCR and improve mutation detection sensitivity via COLD-PCR amplification...
- Chaperones as thermodynamic sensors of drug-target interactions reveal kinase inhibitor specificities in living cellsMikko Taipale
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA
Nat Biotechnol 31:630-7. 2013....
- Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcomeYoon Jae Cho
Children s Hospital Boston, Boston, MA 02115, USA
J Clin Oncol 29:1424-30. 2011....
- Profiling critical cancer gene mutations in clinical tumor samplesLaura E MacConaill
Center for Cancer Genome Discovery, Dana Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts, USA
PLoS ONE 4:e7887. 2009..We report the implementation of a genotyping and validation algorithm that enables robust tumor mutation profiling in the clinical setting...
- Phase II study of protracted daily temozolomide for low-grade gliomas in adultsSantosh Kesari
Dana Farber Brigham and Women s Cancer Center, Center for Neuro Oncology, Boston, MA 02115, USA
Clin Cancer Res 15:330-7. 2009..Protracted treatment with temozolomide potentially overcomes MGMT resistance and improves outcome. We conducted a phase II study of protracted daily temozolomide in adults with low-grade gliomas...
- High levels of nuclear heat-shock factor 1 (HSF1) are associated with poor prognosis in breast cancerSandro Santagata
Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 108:18378-83. 2011..The findings indicate that HSF1 should be evaluated prospectively as an independent prognostic indicator in ER-positive breast cancer. HSF1 may ultimately be a useful therapeutic target in cancer...
- Embryonic stem cell transcription factor signatures in the diagnosis of primary and metastatic germ cell tumorsSandro Santagata
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Surg Pathol 31:836-45. 2007....
- Anaplastic variant of medulloblastoma mimicking a vestibular schwannomaSandro Santagata
Division of Neuropathology, Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
J Neurooncol 81:49-51. 2007