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.
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marsha Hitchcock at mhitchcock@ivanhoe.com.
FOR MORE INFORMATION, CONTACT:
James P. Evans, MD, PhD
University of North Carolina at Chapel Hill
(919) 966-2007
jpevans@med.unc.edu
