Featured Research

from universities, journals, and other organizations

Beyond PTEN: Alternate Genes Linked To Breast, Thyroid And Kidney Cancer Predisposition

Date:
August 9, 2008
Source:
Cell Press
Summary:
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 is the first in over thirteen years to identify an alternate susceptibility gene for Cowden syndrome and related disorders.

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.

The researchers include Ying Ni, Cleveland Clinic Foundation, Cleveland, OH; Kevin M. Zbuk, Cleveland Clinic Foundation, Cleveland, OH; Tammy Sadler, Cleveland Clinic Foundation, Cleveland, OH; Attila Patocs, Cleveland Clinic Foundation, Cleveland, OH; Glenn Lobo, Cleveland Clinic Foundation, Cleveland, OH; Emily Edelman, Cleveland Clinic Foundation, Cleveland, OH; Petra Platzer, Cleveland Clinic Foundation, Cleveland, OH; Mohammed S. Orloff, Cleveland Clinic Foundation, Cleveland, OH; Kristin A. Waite, Cleveland Clinic Foundation, Cleveland, OH; and Charis Eng, Cleveland Clinic Foundation, Cleveland, OH, CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH.


Story Source:

The above story is based on materials provided by Cell Press. Note: Materials may be edited for content and length.


Cite This Page:

Cell Press. "Beyond PTEN: Alternate Genes Linked To Breast, Thyroid And Kidney Cancer Predisposition." ScienceDaily. ScienceDaily, 9 August 2008. <www.sciencedaily.com/releases/2008/08/080807130820.htm>.
Cell Press. (2008, August 9). Beyond PTEN: Alternate Genes Linked To Breast, Thyroid And Kidney Cancer Predisposition. ScienceDaily. Retrieved October 21, 2014 from www.sciencedaily.com/releases/2008/08/080807130820.htm
Cell Press. "Beyond PTEN: Alternate Genes Linked To Breast, Thyroid And Kidney Cancer Predisposition." ScienceDaily. www.sciencedaily.com/releases/2008/08/080807130820.htm (accessed October 21, 2014).

Share This



More Health & Medicine News

Tuesday, October 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

How Nigeria Beat Its Ebola Outbreak

How Nigeria Beat Its Ebola Outbreak

Newsy (Oct. 20, 2014) The World Health Organization has declared Nigeria free of Ebola. Health experts credit a bit of luck and the government's initial response. Video provided by Newsy
Powered by NewsLook.com
Another Study Suggests Viagra Is Good For The Heart

Another Study Suggests Viagra Is Good For The Heart

Newsy (Oct. 20, 2014) An ingredient in erectile-dysfunction medications such as Viagra could improve heart function. Perhaps not surprising, given Viagra's history. Video provided by Newsy
Powered by NewsLook.com
Ebola Worries End for Dozens on U.S. Watch Lists

Ebola Worries End for Dozens on U.S. Watch Lists

Reuters - US Online Video (Oct. 20, 2014) Forty-three people who had contact with Thomas Eric Duncan, the first person diagnosed with Ebola in the U.S., were cleared overnight of twice-daily monitoring after 21 days of showing no symptoms. Rough Cut (no reporter narration). Video provided by Reuters
Powered by NewsLook.com
CDC Calls for New Ebola Safety Guidelines

CDC Calls for New Ebola Safety Guidelines

AP (Oct. 20, 2014) Centers for Disease Control and Prevention Director Dr. Tom Frieden laid out new guidelines for health care workers when dealing with the deadly Ebola virus including new precautions when taking off personal protective equipment. (Oct. 20) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins