Community Spotlight

Christy Mattey

Schweitzer_Spotlight_PhotoOn my 43rd birthday I was diagnosed with an advanced stage breast cancer. Although my BRCA1 and BRCA2 results were surprisingly negative, I was certain there must be a genetic component to my breast cancer since I was diagnosed at a fairly young age. I remained in contact with my geneticist, Dr. Georgia Wiesner, and in 2016 she suggested I have more genetic testing for inherited breast cancer through a multi-gene test, which wasn’t available in 2011 when I was initially diagnosed. As a result of my additional testing performed through Dr. Wiesner, I found out I was positive for the CHEK2 mutation which not only explains my personal history of breast cancer but affords me the knowledge of additional screenings I may choose to have in the future. There was not a lot of information on the CHEK2 mutation and I found myself very fortunate to find a closed support group on social media for women and men that have also tested positive for a CHEK2 mutation (Facebook CHEK2 Mutation Support Group). I subsequently brought a family member to Moffitt for testing, at which time I came to know about and enroll in the Inherited Cancer Registry (ICARE) and am passionately dedicated to helping find answers with regards to how our genes may play a significant role in our cancer diagnosis and potentially our clinical outcome.

If you are interested in joining this CHEK2 support group on Facebook, simply search for “CHEK2 Mutation Support Group” and request to join. As this is a private group, moderators will screen individuals who request to be added to the group.

 

Cynthia Cardenas Schweitzer

Schweitzer_Spotlight_PhotoWhen I was diagnosed with cancer the first time at age 38, my sister (a breast cancer survivor since the age of 29) was positive we had a BRCA gene mutation. However, after we both had genetic testing done in 2006 the results showed we didn’t. Doctors said they were surprised we did not have a mutation in one of the BRCA genes, but believed we probably had another gene mutation that was not yet identified. In 2011, we were asked to participate in a genetic study called Whole Genome Analysis of High Risk Cancer Families through the Genetics Program at the University of North Carolina at Chapel Hill. We both had our DNA sequenced and were found to have a mutation in the PALB2 gene. The genetic study asked if other family members would be willing to be tested and out of the 19 members tested, 18 were positive for PALB2. Since my second battle with breast cancer this past year, I am more committed to help in whatever way I can help find a cure and find answers as to how our genes play a crucial role with cancer.

 

Mari-Lynn Slayton

Slayton_Spotlight_Photo_EditedI was first diagnosed with breast cancer when I was 56 years old.  Because of my strong family history of breast cancer, I was referred for genetic counseling and had BRCA testing at that time. Recently, I was diagnosed with breast cancer again. When I went to see my surgeon, she advised me to have more genetic testing for inherited breast cancer through multi-gene tests, which were not yet available when I first had my testing. Through this testing, I was found to have a PALB2 gene mutation, which explains my personal and family history of breast cancer. I recently enrolled in the Inherited Cancer Registry, as I am interested in participating in research in any way that I can to learn more about inherited cancers in people with a PALB2 mutation.