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Cancer Markers

A Non-BRCA Mutation that Could Lead to Earlier Diagnosis

Consideration of Hereditary Nonpolyposis Colorectal Cancer in BRCA Mutation-Negative Familial Ovarian Cancer

Cancer, 2009

Stacey A. South, MD, Heidi Vance, MS, Carolyn Farrell, MS, CNP, Richard A. DiCioccio, PhD, Cathy Fahey, BS, M. Steven Piver, MD, and Kerry Rodabaugh, MD

While BRCA mutations are the markers most often associated with breast and ovarian cancer, other mutations can make women more susceptible to developing these and other cancers. A 2009 study using data from the Gilda Radner Familial Ovarian Cancer Registry examined whether a mutation often associated with colorectal cancer may be a reliable marker for determining ovarian cancer risk.

The study examined DNA from these patients, who did not have the BRCA mutation, to determine if any were carriers for a mutation often associated with a certain kind of cancer known as hereditary nonpolyposis colorectal cancer. The mutation is also linked with a higher risk of ovarian cancer, but it is not screened for in patients as often as BRCA mutations.

This study found some link between the presence of the mutation and the risk of ovarian cancer. If this or other mutations eventually are found to be a reliable determination of risk factor, this information could help save lives through increased screening and other early intervention methods.