Dr. Yurgelun on Susceptibility Gene Mutations in CRC

Matthew Yurgelun, MD
Published: Thursday, Jun 30, 2016



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.
SELECTED
LANGUAGE


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.

View Conference Coverage
Online CME Activities
TitleExpiration DateCME Credits
Medical Crossfire®: How to Use Liquid Biopsies Throughout the Lung Cancer Treatment Continuum OnlineJan 31, 20191.5
Community Practice Connections™: Current Status and the Future Potential of CAR T-Cell Therapy for Lymphoid Malignancies: The Experts Weigh-In on Recent Data and Clinical ExperienceJan 31, 20192.0
Publication Bottom Border
Border Publication
x