Researchers at Brigham and Women's Hospital and Dana-Faber Cancer Institute have developed an online questionnaire to help physicians determine whether patients at risk for colon cancer are likely to carry mutations in two genes linked to the most common hereditary form of the disease.
The investigators, who report their results in the Sept. 27 issue of the Journal of the American Medical Association, developed the questionnaire based on findings from a five-year study of clinical and genetic data from nearly 2,000 patients. They determined that personal and family medical histories reliably predict an individual's chances of harboring mutations in the cancer-related genes.
The questionnaire, available at http://www.dfci.org/premm and developed from the largest study of these gene mutations in U.S. patients, is one of the first tools with which doctors can quantify patients' likelihood of carrying inherited mutations associated with colon cancer. "We hope the model, and the ease of accessing it on the Web, will lead to healthcare providers being easily able to identify at-risk patients and result in screening at an early age," says Sapna Syngal, MD, MPH, of Brigham and Women's and the study's senior author. "Prevention remains one of our best weapons against colon and other cancers."
The study's lead author is Judith Balmana, MD, formerly of Dana-Farber and currently at the Hospital Vall D'Hebron, Universitat Autonoma of Barcelona, Spain.
Between two and five percent of all colorectal cancers in western countries arise in people with mutations in the genes MLH1 and MSH2 -- a condition called Lynch syndrome. "Our goal was to produce a model that could help doctors quantify a patient's risk of having MLH1 and MSH2 mutations," says Syngal. "Patients at high risk would then be referred for tissue or genetic testing to ascertain whether or not they carry the mutations."
In families with Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC), individuals have an increased risk of developing colorectal cancer, often at an early age. Family members also face a higher-than-average risk for other cancers, including those of the uterine tract lining, ovaries, stomach, small intestines, urinary tract, brain, and skin.
Early identification of people with MLH1 and MSH2 mutations is important because such individuals require a different level of medical management, Syngal notes. Guidelines call for them to receive a colonoscopy every year or two, compared to every ten years for the general population, and they're screened at a more frequent rate for other tumors as well. For some individuals, prophylactic surgeries such as removal of the colon and/or uterus and ovaries may be recommended.
For the current study, Myriad Genetic Laboratories, Inc., of Salt Lake City, provided Syngal and her colleagues with genetic test results from blood samples of 898 patients at risk for colon cancer, along with information on the medical history of the patients and their families. All potentially identifying information had been removed from the data to protect patient anonymity. Investigators matched the samples that tested positive for MLH1 and MSH2 mutations with patients' reports of their medical history. (The reports came from healthcare providers, not patients.)
"We found a close correlation between patients and their families' history of colon and other HNPCC-related cancers and the presence of the two gene mutations," says Syngal, who is also an assistant professor of medicine at Harvard Medical School. After researchers developed the questionnaire model, they validated it with data from an additional 1,016 patients.
Finnish research group discovers a new immune system regulator
23.02.2018 | University of Turku
Minimising risks of transplants
22.02.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg
A newly developed laser technology has enabled physicists in the Laboratory for Attosecond Physics (jointly run by LMU Munich and the Max Planck Institute of Quantum Optics) to generate attosecond bursts of high-energy photons of unprecedented intensity. This has made it possible to observe the interaction of multiple photons in a single such pulse with electrons in the inner orbital shell of an atom.
In order to observe the ultrafast electron motion in the inner shells of atoms with short light pulses, the pulses must not only be ultrashort, but very...
A group of researchers led by Andrea Cavalleri at the Max Planck Institute for Structure and Dynamics of Matter (MPSD) in Hamburg has demonstrated a new method enabling precise measurements of the interatomic forces that hold crystalline solids together. The paper Probing the Interatomic Potential of Solids by Strong-Field Nonlinear Phononics, published online in Nature, explains how a terahertz-frequency laser pulse can drive very large deformations of the crystal.
By measuring the highly unusual atomic trajectories under extreme electromagnetic transients, the MPSD group could reconstruct how rigid the atomic bonds are...
Quantum computers may one day solve algorithmic problems which even the biggest supercomputers today can’t manage. But how do you test a quantum computer to...
For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.
In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...
Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale
Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...
15.02.2018 | Event News
13.02.2018 | Event News
12.02.2018 | Event News
23.02.2018 | Physics and Astronomy
23.02.2018 | Health and Medicine
23.02.2018 | Physics and Astronomy