A5061726550- Cancer Genomics and Diagnostics
- Glioma Diagnosis and Treatment
- Renal cell carcinoma treatment
- Cutaneous Melanoma Detection and Management
- Chromatin Remodeling and Cancer
- Neuroblastoma Research and Treatments
- Testicular diseases and treatments
- Ovarian cancer diagnosis and treatment
- Nonmelanoma Skin Cancer Studies
- Genomics and Chromatin Dynamics
- Colorectal and Anal Carcinomas
- Lung Cancer Research Studies
- Occupational and environmental lung diseases
- Neuroendocrine Tumor Research Advances
- Cancer Mechanisms and Therapy
- DNA Repair Mechanisms
- NF-κB Signaling Pathways
- Cancer, Hypoxia, and Metabolism
- Single-cell and spatial transcriptomics
University of California, San Francisco
2016-2020
Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset gangliogliomas are known to harbor activating p.V600E mutation in BRAF oncogene, genetic alterations responsible remainder largely unknown, as spectrum any additional cooperating gene mutations or copy number alterations. We performed targeted next-generation sequencing provides comprehensive assessment mutations, fusions, and on cohort 40...
Abstract Cohesin is a multiprotein ring that responsible for cohesion of sister chromatids and formation DNA loops to regulate gene expression. Genomic analyses have identified the cohesin subunit STAG2 frequently inactivated by mutations in cancer. However, reason are selected during tumorigenesis strategies therapeutically targeting mutant cancer cells largely unknown. Here we show essential replication fork progression, whereby inactivation non-transformed leads stalling collapse with...
Sebaceous carcinomas (SeC) are cutaneous malignancies that, in rare cases, metastasize and prove fatal. Here we report whole-exome sequencing on 32 SeC, revealing distinct mutational classes that explain both cancer ontogeny clinical course. A UV-damage signature predominates 10/32 samples, while nine show microsatellite instability (MSI) profiles. SeC exhibited poorly differentiated, infiltrative histopathology compared to MSI (p = 0.003), features previously associated with dissemination....
Abstract Chordoid glioma is a rare brain tumor thought to arise from specialized glial cells of the lamina terminalis along anterior wall third ventricle. Despite being histologically low-grade, chordoid gliomas are often associated with poor outcome, as their stereotypic location in ventricle makes resection challenging and efficacious adjuvant therapies have not been developed. Here we performed genomic profiling on 13 identified recurrent D463H missense mutation PRKCA all tumors, which...
Abstract Immature teratoma is a subtype of malignant germ cell tumor the ovary that occurs most commonly in first three decades life, frequently with bilateral ovarian disease. Despite being second common ovary, little known about its genetic underpinnings. Here we performed multi-region whole exome sequencing to interrogate zygosity, clonal relationship, DNA copy number, and mutational status 52 pathologically distinct components from 10 females immature teratomas, tumors present 5 cases...