New research indicates that certain metabolites, such as fumarate, may serve as predictive biomarkers that could distinguish patients with PTEN mutations who will develop neurodevelopmental disorders from those who will develop cancer.
Cleveland Clinic’s Genomic Medicine Institute is looking at the use of sophisticated 3-D modeling to help discern nuanced but important structural differences between germline PTEN variants associated with and predictive of a patient’s clinical condition.
A new study examining the gene phosphate and tensin homolog (PTEN) calls for both early detection of cancer and awareness of the importance of precision therapy.
A case of developmental delay, hypotonia and macrocephaly in a toddler leads to discovery of identical PTEN gene mutations in multiple family members, thanks to a multidisciplinary PTEN clinic.
Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services Policy
Patients with inherited cancer syndromes benefit from a Cleveland Clinic multidisciplinary referral network that provides a formal thyroid cancer screening process.
The discovery of cancer-predisposing gene mutations associated with Cowden syndrome and some apparently sporadic thyroid cancers highlights how cellular stress responses can be hijacked by cancer cells to promote their survival.
The largest analyses to date of autism in twins and in females have yielded some novel insights. Lead researcher Thomas Frazier, PhD, gives the lowdown, and looks ahead to a Rett syndrome trial.
A Cleveland Clinic study of patients with some features of Cowden syndrome and endometrial cancer shows that certain demographic and clinical features can predict the likelihood of harboring a PTEN or other gene mutation and serve as a catalyst for cancer genetic evaluation.