BRCA Mutations Investigated in Colorectal Cancer (interview)

oncology news

 Furthermore, even the genes we think we do understand well, we're learning that the spectrum of cancer risk linked to them may be wider than we traditionally though, and I think we need to do larger studies looking at specifically whether or not these mutations mean the same things when you find them in a non-traditional fashion, such as when we find a BRCA mutation in a colorectal cancer patient.

 A recent study uncovered BRCA1 and BRCA2 mutations as possible risk markers for colorectal cancer, according to Matthew B. Yurgelun, MD.

In an interview with Targeted Oncology, Yurgelun, Instructor in Medicine, Harvard Medical School, discusses a possible link between BRCA1 and BRCA2 mutations and colorectal cancer, as well as other genetic markers that have yet to be defined.

TARGETED ONCOLOGY: Can you tell us about your recent study into colorectal cancer risk?.....

Yurgelun: We examined over 1000 individuals with colorectal cancer who were seen at the Dana Farber Cancer Institute, and who ultimately consented to participation in a sample registry. We were really looking to try to understand what the prevalence of hereditary cancer susceptibility syndromes is in this patient population. Data that are out there suggest that there's probably about a 3% prevalence of Lynch syndrome in colorectal cancer patients, but these data have been primarily ascertained from looking for specific high-risk features in the colorectal cancer patients themselves. These features include tumor testing for mismatch repair deficiency and high-level microsatellite instability.

We were really trying to go into this looking at patients without any sort of pre-selection, and to test them beyond just Lynch syndrome. We wanted to test them for Lynch syndrome, but also for mutations linked to other hereditary colorectal cancer syndromes, as well as other hereditary cancer syndromes that are not necessarily linked to other colorectal cancer risks.