Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Uterine cancer may be clue to inherited syndrome

07.08.2006
A new study suggests that women with endometrial cancer should be screened for inherited mutations that could lead to a high risk of several other cancers.

The study showed that 1.8 percent, or about one in 50, of newly diagnosed endometrial cancer patients have mutations for Lynch syndrome, an inherited condition also known as hereditary nonpolyposis colon cancer, or HNPCC.

People with Lynch syndrome mutations are at high risk for colon, endometrial, ovarian and gastric cancer. Endometrial, or uterine, cancer is the most common cancer in women with this condition.

The study, led by researchers at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James), is published in the Aug. 1 issue of Cancer Research.

The study is the first to comprehensively screen a large number of women with uterine cancer for Lynch syndrome mutations, said Heather Hampel, a genetic counselor in the clinical cancer genetics program and first author of the study.

“It's important to identify women with one of these mutations because they have a very high risk for developing colon cancer, and they may not be aware of that risk,” said Hampel. “Because this is hereditary, half of her siblings and children may also be at risk for the syndrome.

“For this reason, the relatives of a person with Lynch syndrome should also be screened for the responsible gene mutation,” said Hampel, a clinical assistant professor in the department of internal medicine.

Family members who also have the mutation need close monitoring for early cancer detection, including an annual colonoscopy starting at age 25 and endometrial cancer screening (using ultrasounds and biopsies) starting at age 30, Hampel said.

Family members without the mutation can follow the American Cancer Society's guidelines for colorectal cancer screening, which call for a colonoscopy every 10 years starting at age 50 and no routine endometrial cancer screening, she said.

This study involving 543 women was led by Albert de la Chapelle, co-leader of the OSUCCC Molecular Biology and Cancer Genetics Program. Participants in the study were diagnosed and treated for endometrial cancer at the three major hospital systems in Columbus, Ohio, between 1999 and 2003.

To learn the frequency of Lynch syndrome mutations among all newly diagnosed endometrial cancer patients, the researchers tested tissue from the tumors from each patient for MSI (microsatellite instability), a change in the DNA of tumor cells that occurs in more than 90 percent of Lynch syndrome tumors. Of the 543 tumors tested, 118 showed MSI. Because these patients are more likely to have Lynch syndrome, they participated in the gene testing portion of the study and nine (1.8 percent) were found to have Lynch syndrome mutations.

In addition, the researchers used another technique called immunohistochemistry, to prescreen the tumors for mutations. Follow-up gene testing performed on patients with abnormal immunohistochemistry results showed that one additional woman with an MSI-negative tumor also had a Lynch syndrome mutation.

Of the 10 Lynch syndrome patients, seven did not meet the usual criteria for diagnosing the hereditary condition. That diagnosis is largely based on family history and age. Ordinarily, these seven cases would have gone undiagnosed.

In addition, the counseling and testing of 21 relatives of the 10 women with Lynch syndrome revealed 10 additional people with Lynch syndrome mutations.

The study is the continuation of an Ohio State colon cancer study also led by de la Chapelle that was published in the New England Journal of Medicine in 2005. In that study, 2.2 percent of newly diagnosed colon cancer patients tested positive for Lynch syndrome.

That study recommended testing all newly diagnosed colon cancer patients for the inherited syndrome, Hampel said. As a result, Ohio State University Medical Center now routinely screens all newly diagnosed colon cancer patients to find those most likely to have Lynch syndrome using the immunohistochemistry test, Hampel said. She hopes for a similar change in the standard of care for endometrial cancer patients as well.

“We think such genetic testing should be nationwide on all colon cancer and endometrial cancer patients, but further cost-benefit analysis and study is needed first,” Hampel said. “Screening for Lynch syndrome can save lives.”

In addition to Ohio State's James Cancer Hospital and Solove Research Institute, hospitals in the Mount Carmel Health System and OhioHealth, all in Columbus, contributed to the study.

Funding from the National Cancer Institute and the Andrew McGriffin Barford Memorial Fund supported this research.

Eileen Scahill | EurekAlert!
Further information:
http://www.osumc.edu

More articles from Studies and Analyses:

nachricht WAKE-UP provides new treatment option for stroke patients | International study led by UKE
17.05.2018 | Universitätsklinikum Hamburg-Eppendorf

nachricht First form of therapy for childhood dementia CLN2 developed
25.04.2018 | Universitätsklinikum Hamburg-Eppendorf

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Powerful IT security for the car of the future – research alliance develops new approaches

The more electronics steer, accelerate and brake cars, the more important it is to protect them against cyber-attacks. That is why 15 partners from industry and academia will work together over the next three years on new approaches to IT security in self-driving cars. The joint project goes by the name Security For Connected, Autonomous Cars (SecForCARs) and has funding of €7.2 million from the German Federal Ministry of Education and Research. Infineon is leading the project.

Vehicles already offer diverse communication interfaces and more and more automated functions, such as distance and lane-keeping assist systems. At the same...

Im Focus: Molecular switch will facilitate the development of pioneering electro-optical devices

A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.

The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

In focus: Climate adapted plants

25.05.2018 | Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

 
Latest News

In focus: Climate adapted plants

25.05.2018 | Event News

Flow probes from the 3D printer

25.05.2018 | Machine Engineering

Less is more? Gene switch for healthy aging found

25.05.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>