Navigation Links
Beyond PTEN: Alternate genes linked to breast, thyroid and kidney cancer predisposition
Date:8/7/2008

A new discovery may lead to more effective screening and treatment for patients with a difficult to recognize syndrome characterized by tumor-like growths and a high risk of developing specific cancers. The research, published by Cell Press in the August 7 issue of the American Journal of Human Genetics, is the first in over thirteen years to identify an alternate susceptibility gene for Cowden syndrome (CS) and related disorders.

Mutations of the common tumor suppressor PTEN are associated with most cases of CS, a poorly recognized, inherited cancer syndrome that causes benign and malignant breast, thyroid and uterine tumors. However, about 15% of CS patients do not exhibit PTEN mutations and the cause for the disorder in these patients is unknown. Further, many patients present with a poorly understood CS-like syndromes that do not meet the diagnostic guidelines for CS. "Other susceptibility genes for CS and CS-like phenotypes must exist," says lead study author Dr. Charis Eng, the Hardis Chair and Director of the Genomic Medicine Institute at the Cleveland Clinic.

Succinate dehydrogenase (SDH) is a mitochondrial enzyme that is responsible for energy production and is therefore vital to all organs and organisms. Mutations in both copies of the SDH genes cause a rare devastating brain and heart condition resulting in death in infancy and childhood. Surprisingly, mutations in one of the pair of genes for various forms of SDH (referred to as SDHx) have been linked to a group of rare tumors called paragangliomas and pheochromocytomas. Dr. Eng noticed, however, that 1-5% of individuals with these rare tumors also had thyroid cancers similar to those observed in CS and CS-like patients. "We hypothesized that SDHx might represent susceptibility genes, other than PTEN, for CS/CS-like syndromes," explains Dr. Eng.

Dr. Eng and colleagues screened samples from CS/CS-like individuals that did not possess PTEN mutations for mitochondrial dysfunction. They identified a subset of patients with CS or CS-like syndrome that had various SDH mutations that were unrelated to PTEN mutations. Compared with PTEN mutation positive CS/CS-like individuals, those with SDH mutations exhibited a consistently increased risk for breast, thyroid and kidney cancers. Interestingly, in the absence of PTEN alteration, CS/CS-like-related SDH mutations exhibited perturbations of cellular signaling pathways similar to those seen in PTEN dysfunction.

"Our data have important implications for both patient care and genetic counseling. I would like to see others independently repeat our observations. Nonetheless, clinicians should consider SDH testing for PTEN mutation-negative CS/CS-like individuals, especially if these individuals have a strong personal history and/or family history of breast, thyroid or kidney cancer. In fact, patients with SDHx mutation should be more rigorously screened for these cancers compared to those with PTEN mutations," concludes Dr. Eng.


'/>"/>

Contact: Cathleen Genova
cgenova@cell.com
617-397-2802
Cell Press
Source:Eurekalert

Related medicine news :

1. New Anti-Cellulite Treatment Prepares Women for Warmer Weather and Beyond
2. Lou Gehrigs protein found throughout brain, suggesting effects beyond motor neurons
3. Haemacure Raises $7.8 Million and is Fully Funded Beyond First-Patient-In-Clinic
4. New KLRI Reports Shows Longevity Science Moving Beyond Studying the Obvious to the Downward Spiral Paradigm in the Aging Process
5. PointOne Launches New Business Direction, Healthcare Analytics Beyond Hospitals
6. Beyond Traditional Borders sends more Rice U. undergrads to Africa
7. Beyond nutrition -- plants deliver
8. Beyond Off-shoring and Out-sourcing: Supply Chain Imperatives
9. Beyond the terminal: Palliative care
10. BioElectronics CEO Andrew Whelan: Positioning the Company for Growth During 2008 and Beyond
11. VisionFirst to Create Birminghams Next Reality Star with Beyond the Big E Contest
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/23/2017)... (PRWEB) , ... June 23, 2017 , ... The Aesthetic ... facelift . Dr. Talei has come up with a proprietary technique that he calls ... lifts tissues that have dropped. For all ages, patients can expect to look refreshed, ...
(Date:6/23/2017)... Georgia (PRWEB) , ... June 23, 2017 , ... ... Negative Breast Cancer Conference from Sept. 18 to 20. , The two-day conference ... (TNBC) subtype with the goal of improving patients’ lives and eliminating racial breast ...
(Date:6/23/2017)... ... June 23, 2017 , ... MD Now Urgent Care ... Now’s 28th facility overall and marks the urgent care center's eighth location in Miami-Dade ... of The Falls shopping mall. The new clinic offers a wide array of ...
(Date:6/23/2017)... , ... June 23, 2017 , ... ... Private Flood Insurance offerings. With the Federal Emergency Management Agency’s (FEMA) recent update ... the United States. In 2012, the Biggert-Waters Act was enacted to reflect the ...
(Date:6/23/2017)... ... 2017 , ... Ulster University, Magee Campus in Northern Ireland is hosting The ... to present to graduate students exciting new and innovative hope research based on iFred’s ... The Health Improvement Service of the Western Health & Social Care Trust (WHSCT) in ...
Breaking Medicine News(10 mins):
(Date:6/10/2017)... , June 9, 2017  Shane K. Burchfield, DPM, is recognized ... excellence as a Podiatrist in Alabama . ... Family First Foot Care. He brings over 20 years of experience, ... management and healthcare, to his role. ... Care, PC is pleased to welcome you to his ...
(Date:6/8/2017)... June 8, 2017  StatLab Medical Products ... and manufacturer of diagnostic supplies for the ... Cressey & Company LP ("Cressey & Company"), ... a growth-focused investment in the Company. Cressey ... position from selling shareholder, Prairie Capital, L.P., ...
(Date:6/5/2017)... OMAHA, Neb. , June 5, 2017 /PRNewswire/ ... chair in the United States ... chair that helps a fallen person up to an ... is easily assembled and operated by one assistant and ... hand. It is simple enough that a child can ...
Breaking Medicine Technology: