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Gene Screen for Cancer Triggers

Hope For Delaying The Spread and Growth of Breast Cancer

Reported March 15, 2011

Reported April 1, 2011

Photos stir up memories for Paulette Johnson and her aunt… 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,” Paulette, who is also a breast cancer survivor, told Ivanhoe.

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,” Jim Evans, M.D., Ph.D., from the UNC Cancer Genetics Clinic, told Ivanhoe.

Experts say rare and less common gene variants may cause an inherited risk for some diseases. UNC has identified over 100 families whose pedigree suggests a link to cancer. However, clinical testing came up empty for all 100. 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 [future generations] to go through that,” Paulette told Ivanhoe. “If we can just be part of finding this, it would be so wonderful.”

Interested in decoding your entire genome? Experts say that’ll cost you about $50,000 right now, but it could drop just to $4,000 soon. Researchers say identifying genetic links to these cancers can help us understand all types of cancers.

FOR MORE INFORMATION, CONTACT:
James P. Evans, MD, PhD
University of North Carolina at Chapel Hill
jpevans@med.unc.edu

 

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