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.
Visualizing PTEN: Seeing Mutations Differently
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.
One Gene: Two Distinct Disease Patterns
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.
PTEN Hamartoma Tumor Syndrome: Why Optimal Care Needs to Be ‘All in the Family’
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.
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Prevalence of Thyroid Cancer in Cowden Syndrome and FAP Drives New Screening Recommendations
Patients with inherited cancer syndromes benefit from a Cleveland Clinic multidisciplinary referral network that provides a formal thyroid cancer screening process.
Researchers Identify Gene Variants Linked to Cowden Syndrome, Some Thyroid Cancers
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.
Investigating Autism from All Angles
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.
PTEN Research Provides New Insight on Inherited Cancers and Potential Predictors
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.