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Genetic Alterations in Medulloblastomas - MLL Genes as Targets for Diagnosis and Therapeutics

Medulloblastoma (MB) is the most common malignant brain tumor of children. To identify the genetic alterations in this tumor type, we searched for copy number alterations using high density microarrays and sequenced all known protein-coding genes and miRNA genes using Sanger sequencing. We found that, on average, each tumor had 11 gene alterations,...

Published: 9/26/2024 | Inventor(s): Xiaosong Zhang, Hai Yan, Gregory Riggins, Victor Velculescu, Kenneth Kinzler, Darell Bigner, Nickolas Papadopoulos, Donald Parsons, Sian Jones, Rebecca Leary, Meng Li, Bert Vogelstein

Keywords(s): Biomarker, Brain Cancer, Cancers, Clinical Diagnostics, Diagnostic Biomarker, Disease Indication, In Vitro Diagnostics, Medulloblastoma, Therapeutic Matter, Therapeutics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Neurology, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Diagnostics > Diagnostic Biomarkers, Technology Classifications > Therapeutic Modalities > Targets, Technology Classifications > Diagnostics, Clinical and Disease Specializations > Oncology, Technology Classifications > Therapeutic Modalities, Clinical and Disease Specializations > Oncology > Brain Cancer, Clinical and Disease Specializations > Oncology > Medulloblastoma

Exomic sequences of ovarian clear cell carcinomas

Ovarian Clear Cell Carcinoma (OCCC) is an aggressive cancer that is generally resistant to therapy. To gain novel insights into the genetic origin of this tumor type, we determined the exomic sequences of eight tumors after immunoaffinity purification of neoplastic cells. Through comparison to normal cells from the same patients, we identified four...

Published: 9/26/2024 | Inventor(s): Sian Jones, Victor Velculescu, Kenneth Kinzler, Nickolas Papadopoulos, Ie-Ming Shih, Bert Vogelstein

Keywords(s): Biomarker, Cancers, Clinical Diagnostics, Disease Indication, In Vitro Diagnostics, Mechanism-of-action Biomarker, Ovarian Cancer

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Oncology > Ovarian Cancer, Clinical and Disease Specializations > Women's Health, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Diagnostics, Technology Classifications > Diagnostics > In Vitro Diagnostics, Clinical and Disease Specializations > Oncology

PALB2 Gene Mutations Identify Susceptibility to DNA Damaging Agents

PALB2 Gene Mutations Identify Susceptibility to DNA Damaging AgentsJHU Ref #: C10869Unmet NeedPancreatic cancer is predicted to be the second leading cause of cancer-related death by 2030 (Siegel et al., 2020). However, many patients present with advanced disease, and typical broad-spectrum chemotherapeutic treatments are often insufficient. Precision...

Published: 9/26/2024 | Inventor(s): Ralph Hruban, Bert Vogelstein, Kenneth Kinzler, Victor Velculescu, Scott Kern, Sian Jones, Michael Goggins, Manuel Hidalgo, Alison Klein, James Eshleman, Donald Parsons

Keywords(s): Biomarker, Clinical Diagnostics, In Vitro Diagnostics, Risk Stratification

Category(s): Technology Classifications > Computers, Electronics & Software > Precision Medicine Tools, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Computers, Electronics & Software, Technology Classifications > Diagnostics, Clinical and Disease Specializations > Oncology > Pancreatic Cancer, Technology Classifications > Diagnostics > Precision Medicine Tools