Medical Minute 3-15: Gene Screen for Cancer Triggers

By: Ramin Khalili Email
By: Ramin Khalili Email

Photos stir-up memories for Paulette Johnson and her Aunt Dee-Knee, some better than others. In three generations of Johnson women, only two have never gotten breast cancer.

"My aunt and she was diagnosed twice, then my middle sister, and she was diagnosed twice," said Paulette Johnson.

The University of North Carolina's Kristy Lee collects pedigree information, or family info combined with blood and DNA. This tool may ID the genetic building block that flips on the Johnson's breast cancer switch.

"These tragic stories of cancer in a family can be caused by a single change in one of those building blocks," said Jim Evans, M.D., Ph.D., UNC Cancer Genetics Clinic.

Experts say rare and less common gene variants may cause inherited risk for some diseases. UNC has ID'd over 100-families whose pedigree suggests a link to cancer. But clinical testing came up empty for all one hundred. If that specific mutation is found, we could test and ID at-risk folks before they get sick.

"There have been eight mastectomies. I don't want them to go through that," she said.

The solution, teaming-up to untangle their genetic mystery - for the next generation.

"If we can just be part of finding this, it would be so wonderful."

For more information, contact John Cherry at (407) 691-1500, jcherry@ivanhoe.com.


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