Dr. Yurgelun on Susceptibility Gene Mutations in 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.