Studying the relationship between autism spectrum disorder and cancer in individuals affected by PTEN hamartoma tumor syndrome is the subject of a new $2 million grant awarded from the National Institutes of Health to Charis Eng, MD, PhD, Chair of the Genomic Medicine Institute.
The PTEN Hamartoma Tumor Syndrome Foundation has designated Cleveland Clinic as one of only three PTEN Clinical Centers of Excellence in the United States. Cleveland Clinic’s PTEN Multidisciplinary Clinic provides clinical services and support for children and adults with a confirmed or possible diagnosis of PTEN hamartoma tumor syndrome and other disorders within the PHTS spectrum.
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.
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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.