Matthew Yurgelun, MD, instructor in medicine, Harvard Medical School, Dana-Farber Cancer Institute, explains why oncologists should discuss genetic testing with their patients and family members for colorectal cancer (CRC), as well as discusses a common risk factor for the disease.

There is great interest in testing tumor specimens to discover driver mutations that could be treated with targeted therapies, Yurgelun explains. However, it is important to also study germline DNA in order to gain a deeper understanding of an individual patient's cause of disease and whether their family members are at risk for developing CRC.

A common risk factor for developing CRC is family history, especially in the setting of Lynch syndrome. For patients with a family history of CRC, Yurgelun advises that they be screened earlier and more frequently.

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Matthew Yurgelun, MD, instructor in medicine, Harvard Medical School, Dana-Farber Cancer Institute, explains why oncologists should discuss genetic testing with their patients and family members for colorectal cancer, as well as some of the common risk factors for the disease.

Dr. Yurgelun on Educating Patients on Genetic Testing for CRC

Matthew Yurgelun, MD, instructor in medicine, Harvard Medical School, Dana-Farber Cancer Institute, discusses the prevalence of germline cancer susceptibility gene mutations in colorectal cancer (CRC) patients.

Yurgelun and his team at the Dana Farber Cancer Institute looked at 1,059 patients with CRC that had germline DNA collected and had available clinical data. This data was evaluated to look for pathogenic mutations in 25 different cancer susceptibility genes.

It was determined that 10% of patients had pathogenic mutation in one or more cancer susceptibility genes. There was a 3.4% prevalence of Lynch syndrome, which fits what has been reported in established literature, says Yurgelun.

Over 7% of patients with CRC had a mutation in a non- Lynch syndrome susceptibility gene. These are patients that would not be picked up by standard tumor testing, says Yurgelun. They discovered that several of these patients had mutations in BRCA1 and BRCA2, genes which are not traditionally linked to CRC. This was a novel finding, says Yurgelun.

Matthew Yurgelun, MD

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