Navigation Links
Cleveland Clinic researcher identifies 2 new genetic mutations associated with Cowden syndrome
Date:12/13/2012

Thursday, December 13, 2012, Cleveland: Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the American Journal of Human Genetics.

Cowden syndrome is a difficult-to-recognize, under-diagnosed condition that carries high risks of breast, thyroid, and other cancers. The discovery of the two new genes led by Charis Eng, MD, Ph.D., Chair and Founding Director of the Cleveland Clinic's Lerner Research Institute's Genomic Medicine Institute will promote diagnosis and clinical management of the disease, while also assisting in predictive genetic testing and genetic counseling.

Researchers performed genetic sequencing on DNA from individuals with CS who have none of the known genetic alterations associated with CS. State-of-the-art technology was used to identify a high prevalence of mutations in the PIK3CA and AKT1 genes, which are involved in cancer-related signaling pathways.

In tracing the root causes of CS, Dr. Eng has previously identified many genetic alterations that promote the disease, beginning with mutations in the first gene ever to be associated with CS, the tumor suppressor, PTEN, along with the SDHB/D and KLLN genes, identifying their connection with PTEN in cancer.

"Gene-enabled risk assessment and management begins with the identification of all the genes that, when mutated, account for as many or all the individuals with a particular syndrome, in this case CS," said Dr. Eng. "We started with only PTEN, and now we know that SDHB/D, KLLN, PIK3CA and AKT1 account for CS. Each also brings differing risks of breast, thyroid and other cancers, and so this discovery directly aids genetic counseling and clinical management."

This research comes on the heels of two new discoveries by Dr. Eng, both related to Cowden syndrome and the PTEN gene, that were recently published in the Journal of Clinical Endocrinology & Metabolism.

In a Nov. 1 paper, Dr. Eng and her team reported on uncovered, untapped, diagnostic and prognostic pathways for cancers related to the compromised PTEN tumor suppressor.

This discovery that PTEN disrupts cancer signaling pinpoints a novel target for future treatment and diagnosis. This type of location-specific strategy is important in both heritable and sporadic cancers.

In another paper published Dec. 1, Dr. Eng and her team identified a screening biomarker in thyroid cancers that revealed inherited predisposition in Cowden syndrome patients. With the increasing incidence of thyroid cancer over the last few years, having a biomarker to screen for an inherited mutated PTEN tumor suppressor gene would accelerate follow-up for affected individuals.

After a five-year, multi-center study of patients with Cowden syndrome and Cowden-like syndrome, characterized in part by PTEN mutations, researchers have concluded that a simple blood test may screen for individuals carrying increased cancer risk. Until now, only four clinical factors were known to predict an inherited PTEN mutation and this study's blood test out-predicts them all. Future studies testing thyroid tissue itself may reveal additional biomarkers.


'/>"/>

Contact: Laura Ambro
ambrol@ccf.org
216-636-5876
Cleveland Clinic
Source:Eurekalert

Related medicine news :

1. Cleveland Clinic selected to participate in National MDS Clinical Research Consortium
2. Cleveland Clinic researchers discover molecule that may prevent atherosclerosis
3. Cleveland Clinic Florida receives approval for transplant programs at Weston Facilities
4. Cleveland Clinic researchers investigating potential drug for treatment of Alzheimers disease
5. Cleveland Clinic study shows vitamin E may decrease cancer risk in Cowden syndrome patients
6. University Hospitals & Philips Healthcare to showcase imaging technology at Cleveland Medical Mart
7. Lower GI problems plague many with rheumatoid arthritis, Mayo Clinic study finds
8. First targeted nanomedicine to enter human clinical studies
9. Clinical insight improves treatment with new lung cancer drug
10. Clinical news alert from the American Academy of Orthopaedic Surgeons
11. Mayo Clinic launches whole genome breast cancer study
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/20/2017)... , ... June 20, 2017 , ... ... help content solutions for the enterprise, is proud to announce Touchpoints ... e-commerce, ticketing systems, company websites, and more to provide a seamless customer experience. ...
(Date:6/20/2017)... ... ... As a leading dental practice, Wall Centre Dental supports Stroke Awareness Month ... bleeding gums in Vancouver, BC, may be developing gingivitis, the first stage of ... and diabetes. Drs. Parviz Roshan, Siamak Tehrani and Milton Reskovich offer laser gum therapy ...
(Date:6/20/2017)... Boston, MA (PRWEB) , ... June 20, 2017 ... ... Innovation’s (IPI) Clinical Innovation Catalyst program focused on finding product improvements ... have tubes placed in their throats when they need help breathing or to ...
(Date:6/20/2017)... Fort Lauderdale, FL (PRWEB) , ... June 20, 2017 , ... ... Flex, a new scrub collection featuring seven new products designed to create tailored looks ... a mixture of polyester and cotton easy care stretch twill. , With trendy looks ...
(Date:6/20/2017)... CHARLESTON, S.C. (PRWEB) , ... June 20, 2017 , ... ... 2017 Daniel Jordan Fiddle Foundation Leader in Adult Autism Award during the ... Milwaukee, Wisconsin, July 12-15. , The Daniel Jordan Fiddle Foundation (DJFF) was ...
Breaking Medicine News(10 mins):
(Date:6/10/2017)... K. Burchfield, DPM, is recognized by Continental Who,s Who as a ... Alabama . Dr. Burchfield serves as ... over 20 years of experience, as well as expertise in the ... "The podiatry professional ... to welcome you to his practice," the company,s website states. "We ...
(Date:6/8/2017)... 2017   Responding to Heath Ledger,s father,s ... of singer Chris Cornell in May, the mental ... a free online psychiatric drug side effects ... about psychotropic drug risks. The father of ... an accidental overdose, has called for tighter rules on prescription ...
(Date:6/7/2017)... URBANDALE, Iowa , June 6, 2017  Diplomat Specialty Infusion ... a sterile compounding environment to its Iowa ... Urbandale now features an ISO 7 cleanroom—the ... a controlled environment with a low level of pollutants. ... serve more IV nutrition consumers and better serve our ...
Breaking Medicine Technology: