Navigation Links
Genetic test results for Lynch syndrome improved with new computer program
Date:11/1/2012

SALT LAKE CITYMany patients who have genetic testing for Lynch syndrome, a hereditary predisposition to colon cancer, receive the inconclusive result "variants of uncertain clinical significance." This can be a problem, as people with Lynch syndrome have a much higher probability to develop colon cancer, and often develop colon cancer at an earlier age than is common among the general population; consequently, they need to begin screening at a much younger age.

Now, between two-thirds and three-fourths of these genetic variants can be classified into categories that indicate the most appropriate screening and treatment guidelines, according to two complementary papers published in this month's Human Mutation Early View e-publication. The two papers, both co-authored by Sean Tavtigian, Ph.D., a Huntsman Cancer Institute (HCI) investigator and associate professor in the Department of Oncological Sciences at the University of Utah, provide a model that could help physicians as they assess their patient's risk to develop cancer.

According to the American Cancer Society, about 143,460 new cases of colon cancer will be diagnosed in the United States this year. The National Cancer Institute estimates that two to four percent of all colon cancer is attributable to Lynch syndrome.

Mutations in mismatch repair genes, which proofread DNA to correct genetic typos that occur during the replication process, are known to be the cause of the syndrome. "Some people in families with Lynch syndrome have already known mutations, and a small number of missense substitutions have also been classified as pathogenic," said Tavtigian. "But a fair number have other missense substitutions for which the clinical significance could not be determined, creating uncertainty concerning proper screening and treatment for patients and physicians alike."

The first of the two studies reported on standardizing several already available computer programs t
'/>"/>

Contact: Linda Aagard
801-587-7639
University of Utah Health Sciences
Source:Eurekalert

Page: 1 2

Related medicine news :

1. IU researchers report first effective treatment of tumors arising from common genetic disease NF1
2. Smoking and hyperactivity share common genetic risk factor
3. Moffitt Researchers find genetic predictors of fatigue for some prostate cancer patients
4. CWRUs Maxwell J. Mehlmans book examines issues emerging in genetic engineering
5. Genetically-engineered preclinical models predict pharmacodynamic response
6. Scientists Map Genetic Blueprint of Heart
7. Epigenetics emerges powerfully as a clinical tool
8. Parents of babies with sickle cell trait are less likely to receive genetic counseling, study says
9. How genetics shape our addictions
10. Researchers find first evidence for a genetic cause for Barretts esophagus
11. Genetics Society of Americas Genetics journal highlights for September 2012
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/13/2014)... 2014 Ticket Down is a ... This beloved pop-rock group that originally formed in 1994 in ... Fans of the group had been anticipating a new album ... were excited yet about the release of their new album, ... announced a massive worldwide tour beginning in the United States ...
(Date:9/13/2014)... 2014 Healthcare employers, hospitals, insurance ... to operators in the Healthcare Consultants ... “Over the past five years, demand for healthcare ... the healthcare sector and the changing regulatory environment,” ... the 2010 Patient Protection and Affordable Care Act ...
(Date:9/13/2014)... 13, 2014 Termlifeinsurancequotesonline.org has released ... life insurance for smokers. , Smokers can now ... a medical examination. The only application process clients have ... answering a few medical questions. , Since smoking ... plans before making a decision. Comparing life insurance policies ...
(Date:9/13/2014)... Researchers say they,ve tracked specific activity in the human ... whether imagination and memory were distinct processes, so a ... to explore the issue. "I was thinking a ... myself in the future, and I started wondering how ... said in a university news release. "I wondered ...
(Date:9/13/2014)... Bedros Keuilian, founder of the internationally franchised Fit Body ... always been an advocate of using Groupon as a marketing ... but the post explains that this isn’t true; but the ... lot of people think of Groupon deals as a way ... special and the only thing they’re thinking of is the ...
Breaking Medicine News(10 mins):Health News:Maroon 5 Tickets Now on Sale in Philadelphia, Washington DC, Nashville, San Jose, Chicago, Dallas, Los Angeles, Tacoma, Saint Paul, Vancouver, San Diego & New York 2Health News:Maroon 5 Tickets Now on Sale in Philadelphia, Washington DC, Nashville, San Jose, Chicago, Dallas, Los Angeles, Tacoma, Saint Paul, Vancouver, San Diego & New York 3Health News:Healthcare Consultants in the US Industry Market Research Report from IBISWorld Has Been Updated 2Health News:Healthcare Consultants in the US Industry Market Research Report from IBISWorld Has Been Updated 3Health News:Smokers Can Qualify for Life Insurance Without Taking a Medical Exam 2Health News:Scientists Watch Imagination at Work in the Brain 2Health News:Renegade Fitness Marketing Expert Reveals How Personal Trainers Can Use Groupon More Effectively to Sign New Clients 2Health News:Renegade Fitness Marketing Expert Reveals How Personal Trainers Can Use Groupon More Effectively to Sign New Clients 3
... (AIs) prevent the conversion of androgens to estrogens, and could ... This study of 36 pre-menopausal women consisted of a cross-over ... wine and white wine in their effects on AIs. ... white wine (or vice versa), each beverage for a one-month ...
... HealthDay Reporter , WEDNESDAY, Jan. 18 (HealthDay News) ... to have successfully cleared the hepatitis C virus in ... more, the approach seems to work without the need ... causes serious side effects in many patients. Scientists ...
... , TUESDAY, Jan. 17 (HealthDay News) -- An experimental anti-blood-clotting ... as Plavix in the days before heart surgery, a new ... to have the potential to serve as a "bridge" medication ... procedures such as coronary artery bypass grafting, the study authors ...
... into the treatment, prognosis and early detection of gastrointestinal ... annual Gastrointestinal Cancers Symposium being held January 19-21, 2012, ... Four important studies were highlighted today in a ... Patients at High Risk for Esophageal Cancer: Newly found ...
... of care advances, more infants and children with ... are left with lifelong neurologic impairment. A ... million pediatric hospitalizations in the U.S. now shows ... small part of the overall population, account for ...
... By Serena Gordon HealthDay Reporter , TUESDAY, Jan. ... one in six American children are obese, new government reports show. ... the past 12 years, those rates have remained roughly the same. ... some time. And, this is not just the U.S. It,s happening ...
Cached Medicine News:Health News:New Drug Combo for Hepatitis C Shows Promise 2Health News:New Drug Combo for Hepatitis C Shows Promise 3Health News:Experimental Blood Thinner Given Before Surgery Shows Benefit 2Health News:2012 Gastroinstestinal Cancers Symposium reveals new advances aimed at improving treatment, prognosis and detection of GI cancers 2Health News:Neurologically impaired children dependent on children's hospitals 2Health News:Americans Aren't Getting Any Skinnier 2Health News:Americans Aren't Getting Any Skinnier 3
(Date:9/14/2014)... , Sept. 14, 2014  Amgen (NASDAQ: AMGN ... S ystolic H eart failure treatment with the ... ivabradine T rial) study evaluating ivabradine in patients with ... Annual Scientific Meeting of the Heart Failure Society of ... post-hoc analysis from the SHIFT study confirmed low systolic blood ...
(Date:9/14/2014)... Sept. 14, 2014  Abbott announced today positive ... first prospective, randomized, controlled trial comparing the safety ... to Abbott,s market-leading metallic XIENCE family of DES.  ... , included 501 people with coronary artery ... disease. The results were featured at a late-breaking ...
(Date:9/13/2014)... , Sept. 13, 2014  Edwards Lifesciences Corporation ... in the science of heart valves and hemodynamic ... outcomes for inoperable patients treated in The PARTNER ... transcatheter aortic valve replacement (TAVR) in patients deemed ... presented as part of the late-breaking clinical trials ...
Breaking Medicine Technology:Amgen Presents Analyses Of Phase 3 Ivabradine Data For The Treatment Of Chronic Heart Failure 2Amgen Presents Analyses Of Phase 3 Ivabradine Data For The Treatment Of Chronic Heart Failure 3Amgen Presents Analyses Of Phase 3 Ivabradine Data For The Treatment Of Chronic Heart Failure 4Amgen Presents Analyses Of Phase 3 Ivabradine Data For The Treatment Of Chronic Heart Failure 5Amgen Presents Analyses Of Phase 3 Ivabradine Data For The Treatment Of Chronic Heart Failure 6Amgen Presents Analyses Of Phase 3 Ivabradine Data For The Treatment Of Chronic Heart Failure 7Amgen Presents Analyses Of Phase 3 Ivabradine Data For The Treatment Of Chronic Heart Failure 8Amgen Presents Analyses Of Phase 3 Ivabradine Data For The Treatment Of Chronic Heart Failure 9ABSORB II Study Shows Abbott's Dissolving Heart Device Comparable to the World's Leading Heart Stent 2ABSORB II Study Shows Abbott's Dissolving Heart Device Comparable to the World's Leading Heart Stent 3ABSORB II Study Shows Abbott's Dissolving Heart Device Comparable to the World's Leading Heart Stent 4ABSORB II Study Shows Abbott's Dissolving Heart Device Comparable to the World's Leading Heart Stent 5Significant Patient Benefits With Edwards Sapien Valve Demonstrated In 5-Year Partner Trial Data 2
... are offered a cost-neutral choice to fill their 90-day ... mail-order pharmacy, they split their preferences largely depending on ... (NYSE: CVS ) has found. ... January edition of the Journal of the American ...
... Wolters Kluwer Health today announced a joint venture with ... decision support to doctors in China as the country ... deal allows Wolters Kluwer Health to expand its market-leading ... the rapidly growing China market and creates a needed ...
Cached Medicine Technology:CVS Caremark Study Evaluates Which Pharmacy Channel Consumers Choose When Given Choice of Mail or Retail Prescriptions 2CVS Caremark Study Evaluates Which Pharmacy Channel Consumers Choose When Given Choice of Mail or Retail Prescriptions 3Wolters Kluwer Health Enters Joint Venture with China Drug Information Provider Medicom 2Wolters Kluwer Health Enters Joint Venture with China Drug Information Provider Medicom 3
... is a national reference laboratory and a ... development. ARUP offers an extensive test menu ... in clinical and anatomic pathology. Owned by ... include more than half of the nation's ...
... Laboratories is a national reference laboratory and ... and development. ARUP offers an extensive test ... tests in clinical and anatomic pathology. Owned ... clients include more than half of the ...
... ARUP Laboratories is a national reference ... laboratory research and development. ARUP offers an ... unique medical tests in clinical and anatomic ... ARUP Laboratories' clients include more than half ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
Medicine Products: