Genetically transitional disease: a new concept in genomic medicine
Q Yao, P Gorevic, B Shen, G Gibson - Trends in Genetics, 2023 - cell.com
Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …
behind scientific progress. In this opinion article, we propose and define a new terminology …
Genetic bases of pheochromocytoma and paraganglioma
The genetics of pheochromocytoma and paraganglioma (PPGL) has become increasingly
complex over the last two decades. The list of genes involved in the development of these …
complex over the last two decades. The list of genes involved in the development of these …
Overview of recent guidelines and consensus statements on initial screening and management of phaeochromocytoma and paraganglioma in SDHx pathogenic …
C Lussey-Lepoutre, K Pacak, A Grossman… - Best Practice & …, 2024 - Elsevier
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with
a strong genetic predisposition, involving over 20 genes and with germline pathogenic …
a strong genetic predisposition, involving over 20 genes and with germline pathogenic …
SDHA-related phaeochromocytoma and paraganglioma: review and clinical management
Phaeochromocytomas and paragangliomas (collectively termed PPGL) are rare yet highly
heritable neuroendocrine tumours, with over one-third of cases associated with germline …
heritable neuroendocrine tumours, with over one-third of cases associated with germline …
Diagnosis and management of pheochromocytomas and paragangliomas: A guide for the clinician
S Sharma, L Fishbein - Endocrine Practice, 2023 - Elsevier
Objective The aim of this review is to provide a practical approach for clinicians regarding
the diagnosis and management of pheochromocytomas and paragangliomas (PPGL) …
the diagnosis and management of pheochromocytomas and paragangliomas (PPGL) …
Principles of molecular testing for hereditary cancer
C Mighton, JP Lerner‐Ellis - Genes, Chromosomes and Cancer, 2022 - Wiley Online Library
Molecular testing for hereditary cancers has rapidly advanced over the past two decades.
Next‐generation sequencing has been widely adopted, which has made molecular testing …
Next‐generation sequencing has been widely adopted, which has made molecular testing …
Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer
KK Landry, MJ DeSarno, L Kipnis… - JCO Precision …, 2024 - ascopubs.org
PURPOSE In patients with a variety of malignancies undergoing multigene panel testing
(MGPT), we examined the frequency of a pathogenic/likely pathogenic variant (PV) that …
(MGPT), we examined the frequency of a pathogenic/likely pathogenic variant (PV) that …
[HTML][HTML] Case report: A rare DLST mutation in patient with metastatic pheochromocytoma: clinical implications and management challenges
C Li, L Han, Y Song, R Liu - Frontiers in Oncology, 2024 - ncbi.nlm.nih.gov
Background Pheochromocytoma is one of the most hereditary human tumors with at least 20
susceptible genes undergoing germline and somatic mutations, and other mutations less …
susceptible genes undergoing germline and somatic mutations, and other mutations less …
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
Von Hippel Lindau (VHL) syndrome presents with cerebellar and spinal
hemangioblastomas, renal cell cancer, neuroendocrine pancreatic tumor, and …
hemangioblastomas, renal cell cancer, neuroendocrine pancreatic tumor, and …
SDHA secondary findings in germline testing: counseling and surveillance considerations
CM Skefos, PL Brock, E Blouch… - Endocrine …, 2024 - eo.bioscientifica.com
This commentary explores the complexities faced by clinicians when encountering a
secondary SDHA pathogenic variant (PV) in patients without a personal or family history of …
secondary SDHA pathogenic variant (PV) in patients without a personal or family history of …