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.
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.
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 i-d at-risk folks before they get sick.
These are the pictures that get Paula worried. The solution, teaming-up to untangle their genetic mystery - for the next generation. Interested in decoding your entire genome? Experts say that'll cost you about 50-thousand bucks right now, but it could drop just to 4-thousand soon. Researchers say identifying genetic links to these cancers can help us understand all types of cancers.
BREAST CANCER AND GENETICS: One of the rarer causes of breast cancer is the inheritance of abnormal, cancer-causing genes. These unfortunate cases are usually associated with two genes – BRCA1 or BRC2. Normally, these genes act in regulating healthy cell growth, but when mutated or abnormal, they are a likely contributor to breast cancer. Most women diagnosed with breast cancer aren't able to trace the disease back to their family history, but women with irregularities in BRCA1 or BRCA2 often can. Screenings for mutations in these genes can now be performed, but there is a lot still to be learned about them. Women who have BRCA1 mutations are put at an 85% risk of developing breast cancer sometime in their life, and have a 40-60% risk of developing ovarian cancer as well. These percentages are overwhelming when compared to the rest of the population, who have a 10-12% risk of breast cancer and a 1-2% risk of ovarian cancer. Men with this mutation are at risk for breast and prostate cancer, but only slightly more than the general population. Women with BRCA2 mutations have the same risk for breast cancer as those with BRCA1 mutations, but have a lower risk for ovarian cancer (27%). (SOURCES: breastcancer.org, netwellness.org)
GENETIC COUNSELING: Genetic counseling is a great option for individuals who have a family history of certain diseases, or who may have genetic conditions that predispose him or her to disease. Such individuals will be able to obtain information, instruction and support by meeting with a licensed, trained medical geneticist or genetic counselor who is equipped to teach the patient about the possible conditions and complications he or she is at risk of developing, based on his or her family and personal medical histories. For example, genetic counselors can provide in-depth information about risk factors and available genetic tests, screenings and preventative steps. (SOURCE: netwellness.org)
SYMPTOMS OF BREAST CANCER: The most pronounced symptom of breast cancer is a noticeable lump in the breast, which feels distinctly different from the surrounding tissue. Other symptoms include discharge from the nipple that appears to contain blood, an inverted nipple, flaking or peeling of the skin around the nipple, a general change in the breast’s shape or size, and a red irritation of the breast’s skin. One should see a doctor if any of these symptoms exist, even if a previous mammogram showed normal results. (SOURCE: Mayo Clinic)
ïª For More Information, Contact:
James P. Evans, MD, PhD
University of North Carolina at Chapel Hill
(Information provided by Ivanhoe)