Hereditary colorectal cancer: Detection of genetic mutations now improved

 Detection of genetic mutations New research suggests strategies to overcome technological limitations to more accurately detect PMS2 – a genetic mutation which plays a role in Lynch syndrome which can lead to colorectal cancer (more commonly known as colon cancer). This can help better diagnose cases of colon cancer and offer more effective treatment.

Lynch syndrome is a hereditary colorectal cancer susceptibility syndrome. Blood relatives of those with Lynch syndrome have a 50 percent chance of developing cancer. PMS2s role in Lynch syndrome has been greatly underestimated due to technological limitations.


Researchers have uncovered a new means of more accurately detecting PMS2. Researchers developed a three-part strategy of which co-investigator Victor Wei Zhang said, “The results from three methods serve as cross validation for enhanced accuracy and reduced turn-around time.”

Lead investigator Lee-Jun C. Wong said, “This combined strategy provides us with a new tool for reliable molecular analysis of any genes containing multiple copies of highly homologous sequences and should improve the positive finding rate for patients with Lynch syndrome if the PMS2 gene is suspected to be defective. Unambiguous identification of exon 14 deletion in patients with suspicious Lynch syndrome reflects the main advantage of this approach, since traditional molecular methods cannot distinguish the deletion of the active gene from that of the pseudogene due to frequent gene conversion between these highly homologous sequences.”

In the past, the Evaluation of Genomic Applications in Practice and Prevention Working Group suggested genetic testing for those with Lynch syndrome. Even though only four percent of colon cancers are caused by Lynch syndrome, the group felt it could not only improve the health of the individual but improve the health of close blood relatives as well.

Individuals with Lynch syndrome have a 16 percent greater chance of developing a second primary colon cancer within 10 years. If a person is identified with Lynch syndrome they routinely undergo colonoscopies and other monitoring tests to ensure colon cancer does not develop.

Colon cancer is the fourth most common cancer within America. It’s typically more common in men than women and it’s estimated that in 2015 there will be 132,700 new diagnosed cases.

The findings were published in The Journal of Molecular Diagnostics.

Author Bio

Emily Lunardo studied medical sociology at York University with a strong focus on the social determinants of health and mental illness. She is a registered Zumba instructor, as well as a Canfit Pro trainer, who teaches fitness classes on a weekly basis. Emily practices healthy habits in her own life as well as helps others with their own personal health goals. Emily joined Bel Marra Health as a health writer in 2013.