Germline mutations of the tumor suppressor gene PTEN are associated with a group of genetic disorders that increase the risk of certain cancers, cognitive and behavioral deficits, benign growths and tumors, and macrocephaly. A recent study suggests that copy number variations may act as genomic modifiers that influence the risk of autism spectrum disorder. Charis Eng, MD, PhD, discusses her latest discovery.
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 provides initial evidence that differences in gut microbiota composition may indicate whether or not a PHTS patient will develop cancer.
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.