Researchers develop clinical screening program for no.1 genetic cause of colon cancer

February 14, 2013

(Medical Xpress)—Cleveland Clinic researchers have found that colorectal cancer outcomes could be improved with regular genetic screening for Lynch syndrome, the most common hereditary, adult-onset cause of colorectal cancer, as published in the online version of the Journal of Clinical Oncology.

Lynch syndrome is the most common of colon cancer in adults. The study found that a universal screening program of all colorectal cancers surgically removed at Cleveland Clinic resulted in increased identification of Lynch syndrome patients by successfully referring individuals whose tumors screen positive to genetics professionals. Identification of Lynch syndrome will lead to significantly improved outcomes for colorectal cancer patients and their family members.

Most are sporadic, and are not due to inherited genetic causes. More than 140 million Americans are diagnosed with colorectal cancer each year. With one out of 35 colorectal cancer cases resulting from Lynch syndrome, a that predisposes to a wide variety of cancers at earlier ages, a clinical recommendation was established in 2009 to screen all colorectal patients for Lynch syndrome. With four million Americans having Lynch syndrome each year, and most going unrecognized, a systematic manner of screening for this condition presented a challenge. Furthermore, another challenge is ensuring that all individuals whose tumors screen positive for potential Lynch syndrome are referred to genetics professionals.

By identifying Lynch syndrome patients, measures can be taken to thwart the development of additional cancers in the patient, as well as increase surveillance in the patient. Once Lynch syndrome has been identified in a patient, his/her family members can be referred to genetics professionals to determine if they too have inherited the same condition. As patients who carry the Lynch gene undergo proactive colon and other for the earliest diagnoses, lives are saved.

The study recommends that a successful program should eliminate "silos" and instead include collaborative representation from colorectal surgery, gastroenterology, gynecology, pathology, genetics, as well as bioethics and oncology. The program must also designate who is to report results to patients and facilitate genetic counseling/testing referral. With clearly assigned roles for patient communication and education, outcomes resulting from Lynch syndrome will be significantly improved.

Led by Charis Eng, M.D., Ph.D., Hardis Chair and Founding Director of the Cleveland Clinic Lerner Research Institute's Genomic Medicine Institute, the researchers studied three approaches, moving certain responsibilities (determining which colorectal cancer patients should receive genetic counseling/testing for Lynch syndrome and contacting the patients with results and recommendations) from the surgeon to genetic counselors. Genetic counselors who received genetic pathology reports on colorectal tumor sections, determined patients who fit criteria consistent with Lynch syndrome, and reached out to patients for further testing saw an increase in referrals and number of patients tested for and diagnosed with Lynch syndrome, the study found.

The Cleveland Clinic researchers have addressed one of the two genomic medicine agenda items of the CDC's Healthy People 2020.

"One of the goals of Healthy People 2020 is to identify as many people who have inherited colon as possible, so they may be referred to genetics professionals for genetic counseling, and management recommendations," said Dr. Eng. "This paper shows successful implementation of a rapid, cost-effective system-wide screening to detect potential Lynch syndrome. Individuals with Lynch syndrome can get at a very young age, are susceptible to multiple cases of the disease, and are also predisposed to other cancers. Instituting high risk surveillance early and routinely saves lives and is an example of value-based delivery of healthcare."

The eight-year, collaborative study also highlighted a need to improve patient education regarding genetic counseling/testing. Perceived lack of benefit and underestimated risk of and associated cancers caused some patients not to pursue testing.

Explore further: New Mayo Clinic test targets Lynch syndrome, a risk factor for colon cancer

Related Stories

New Mayo Clinic test targets Lynch syndrome, a risk factor for colon cancer

May 18, 2011
Mayo Clinic has developed a screening procedure that could dramatically increase testing for Lynch syndrome, a hereditary genetic disorder that raises cancer risk, particularly for colorectal cancer. An estimated 3 percent ...

Snack attack: Eating unhealthy snack foods may affect cancer risk in patients with Lynch syndrome

December 17, 2012
A new analysis has found that loading up on snack foods may increase cancer risk in individuals with an inborn susceptibility to colorectal and other cancers. Published early online in CANCER, a peer-reviewed journal of the ...

UT Southwestern program identifies families at high risk for colorectal cancer

September 1, 2011
UT Southwestern Medical Center has developed a new lifesaving genetic screening program for families at high risk of contracting colorectal cancer, a deadly yet highly preventable form of cancer.

Prevalence of screening for Lynch syndrome varies

February 24, 2012
(HealthDay) -- Screening for Lynch syndrome, the most common form of inherited colorectal cancer, after a colorectal cancer diagnosis is common at comprehensive cancer centers but not community hospitals, according to a study ...

Study identifies genetic mutations associated with cancer risk for hereditary cancer syndrome

June 5, 2011
(Medical Xpress) -- Among various genetic mutations for individuals with Lynch syndrome, a hereditary cancer syndrome that carries a high risk of colon cancer and an above-normal risk of other cancers, researchers have identified ...

Recommended for you

No dye: Cancer patients' gray hair darkened on immune drugs

July 21, 2017
Cancer patients' gray hair unexpectedly turned youthfully dark while taking novel drugs, and it has doctors scratching their heads.

Shooting the achilles heel of nervous system cancers

July 20, 2017
Virtually all cancer treatments used today also damage normal cells, causing the toxic side effects associated with cancer treatment. A cooperative research team led by researchers at Dartmouth's Norris Cotton Cancer Center ...

Molecular changes with age in normal breast tissue are linked to cancer-related changes

July 20, 2017
Several known factors are associated with a higher risk of breast cancer including increasing age, being overweight after menopause, alcohol intake, and family history. However, the underlying biologic mechanisms through ...

Immune-cell numbers predict response to combination immunotherapy in melanoma

July 20, 2017
Whether a melanoma patient will better respond to a single immunotherapy drug or two in combination depends on the abundance of certain white blood cells within their tumors, according to a new study conducted by UC San Francisco ...

Discovery could lead to better results for patients undergoing radiation

July 19, 2017
More than half of cancer patients undergo radiotherapy, in which high doses of radiation are aimed at diseased tissue to kill cancer cells. But due to a phenomenon known as radiation-induced bystander effect (RIBE), in which ...

Definitive genomic study reveals alterations driving most medulloblastoma brain tumors

July 19, 2017
The most comprehensive analysis yet of medulloblastoma has identified genomic changes responsible for more than 75 percent of the brain tumors, including two new suspected cancer genes that were found exclusively in the least ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.