Navigation Links
Researchers create 'scoring system' for PTEN mutation testing
Date:1/10/2011

Monday, January 10, 2011 Cleveland Researchers have discovered a method for more precise identification of individuals who should undergo testing for genetic mutations of the tumor suppressor gene PTEN, which associates with a variety of conditions including several types of cancers. The research has created a diagnostic scoring system that improves on established criteria.

Led by Charis Eng, M.D., Ph.D., Chair of the Genomic Medicine Institute at the Lerner Research Institute of Cleveland Clinic, the study the largest clinical study to date on the identification of PTEN involved 3,042 participants, including both adults and children. Dr. Eng and her team established a semi-quantitative diagnostic score as an evidence-based improvement over the existing National Comprehensive Cancer Network (NCCN) 2010 diagnostic criteria, resulting in more accurate diagnoses and, theoretically, better outcomes.

These results contribute to clinical practice recommendations. "The new criteria give non-genetics healthcare providers a guide of who should be referred to genetics evaluation, which includes genetic counseling," said Dr. Eng. "Knowing one's PTEN gene status will lead to personalized cancer screening, resulting in catching cancers earlier or even preventing them from coming at all."

In addition to the association between mutant PTEN and disease, the study's novel scoring system also incorporates the amount of PTEN protein as it relates to disease. A higher diagnostic score correlates with lower PTEN protein, substantiating previous laboratory studies that show lower PTEN levels associate with carcinogenesis. "This is the first human evidence of a causal relationship between PTEN protein deficiency and disease manifestation, which had only been previously been shown in the laboratory dish or animal model," Eng remarked.

Researchers studied an international group of 290 patients who carry disease-causing PTEN mutations, which exceeds the total number of such patients reported in all published medical literature by 37 percent. The study also hails higher stringency, as only probands (the first family member to be affected by the disease) were included. This increases the study's ability to assess each disease feature, such as macrocephaly (larger-than-normal head size), various cancers and age at onset, as well as skin, neurologic, and gastrointestinal complications, without bias.

For the first time, the scoring system provides criteria for addressing important differences in assessing pediatric versus adult patients. Furthermore, autism, which was first linked to mutant PTEN by Dr. Eng and her team, is included in the clinical criteria. Although vascular malformations (altered blood vessels) have long been reported in adults with Cowden syndrome, the malformations are not part of NCCN criteria. In contrast, the newly discovered criteria specifically recommend these patients undergo further genetic testing for early diagnosis of other lurking complications, such as cancers, so that more careful screening can occur.


'/>"/>

Contact: Dan Doron
dorond@ccf.org
216-312-0428
Cleveland Clinic Foundation
Source:Eurekalert

Related biology news :

1. NC State researchers get to root of parasite genome
2. Researchers find animal with ability to survive climate change
3. Researchers find an essential gene for forming ears of corn
4. Researchers note differences between people and animals on calorie restriction
5. Researchers study acoustic communication in deep-sea fish
6. Researchers discover that growing up too fast may mean dying young in honey bees
7. Researchers study how pistachios may improve heart health
8. UI researchers find potentially toxic substance present in Chicago air
9. Researchers develop new self-training gene prediction program for fungi
10. Case Western Reserve University researchers track Chernobyl fallout
11. Childrens National researchers develop novel anti-tumor vaccine
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/28/2017)... Spanien, 27. Februar 2017  EyeLock LLC, ein marktführendes ... seine erstklassige biometrische Lösung zur Iris-Erkennung auf ... X16 LTE auf dem Mobile World Congress ... Qualcomm-Stand in Halle 3, Stand 3E10, vorstellen. ... Sicherheitsplattform Qualcomm Haven™ – eine Kombination aus ...
(Date:2/22/2017)... , Feb. 22, 2017 With the ... ABI Research identifies four technologies that innovative and ... secure significant share in the changing competitive landscape: ... passive authentication.   "Companies can no ... to security," says Dimitrios Pavlakis , Industry ...
(Date:2/14/2017)... 2017  Wake Forest Baptist Medical Center today announced Julie ... executive officer (CEO). Freischlag joins the medical center on ... , M.D., who last year announced that he would ... after leading it since 2008.   As ... Forest Baptist,s academic health system, which includes Wake Forest ...
Breaking Biology News(10 mins):
(Date:3/27/2017)... Cousins Properties (NYSE: CUZ ) announced today that ... a 10-year, approximately 125,000 square-foot lease at Corporate Center, a ... Westshore submarket of Tampa, FL. ... Center for their new location in Tampa ... officer of Cousins Properties. "Amgen is a cutting-edge global company ...
(Date:3/27/2017)... ROCKVILLE, Md. , March 27, 2017 /PRNewswire/ ... $108.5 billion for 2016, according to a new ... patients, medical lab testing is performed to evaluate ... determine individual therapy, among other reasons.  The healthcare ... Services Market , provides an overview of ...
(Date:3/27/2017)... (PRWEB) , ... March 27, 2017 , ... PMG ... Trial Collaborations (CTC) conference presented by The Conference Forum in Boston on April ... they collaborate to drive improved clinical trial outcomes and bring them closer to the ...
(Date:3/27/2017)... Israel , March 27, 2017 DarioHealth ... with mobile health and big data solutions, today announced ... party insurance coverage option for U.S. consumers who want ... DarioHealth has signed strategic alliance agreements with ... verify insurance coverage benefits, and if approved, will supply ...
Breaking Biology Technology: