Dr. Matthew Yurgelun on Next Steps in Understanding CRC Mutations (BRCA)

video (0:51 min)

 Matthew B. Yurgelun, MD, instructor in Medicine, Harvard Medical School, discusses the next steps in study looking at BRCA1 and BRCA2 mutations and other genetic markers in colorectal cancer.

The study examined over 1000 individuals with colorectal cancer who were seen at the Dana Farber Cancer Institute, and ultimately consented to participation in a sample registry. It found that 10% of patients had pathogenic mutations in one or more cancer susceptibility genes and 7.1% of patients had a mutation in the non-Lynch syndrome cancer susceptibility gene. The most common mutations that were found beyond Lynch syndrome were BRCA1 and BRCA2, which was surprising, says Yurgelun.

Next steps in this study will be to further evaluate the significance of some of these surprise mutations.

There are a lot of genes that are now being tested for where the full spectrum cancer risk that mutations in these genes confer is not understood, says Yurgelun.

The spectrum of cancer risk linked to some genes may be wider than traditionally though, and larger studies looking specifically at whether or not these mutations mean the same things when found in a non-traditional fashion, need to be conducted, he says.