Thank you Kathy Baker for sharing this impactful story about the CDKN2A gene mutation and its links to melanoma and pancreatic cancer risks. It's important that we continue to emphasize the importance of multi-gene testing to raise awareness and inform initiatives that help save lives through advanced genetic testing! #hereditarycancer #genetictesting #knowyourrisk
About a month ago, Martha Kaiser shared a post in support of Skin Cancer Awareness Month. Her post appeared in my feed because we "linked" up after My Faulty Gene memorialized her story and the story of two of her children and their CDKN2A (p16INK4a) gene mutation for our #FamilyGeneShare video project. While CDKN2A is not a gene we hear much about, most of us are familiar with other gene mutations which put individuals at risk of melanoma. Did you know that the CDKN2A (p16INK4A) mutation is not only associated with a HIGH RISK of melanoma, it is also associated with a HIGH RISK of pancreatic cancer? Although I'd spent hours with Martha and her family during their film shoot, I never knew a key fact about Martha's genetic testing. As she relates in her post, only BRCA testing was originally ordered for Martha--probably because of her mother's breast cancer history as well as her own melanoma history. Martha shared that after her test was ordered, Myriad Genetics offered extended panel testing rather than the limited test originally ordered by her gynecologist. Had the multi-gene panel testing not been offered and used, Martha would not have known about her high risk of both melanoma and pancreatic cancer. I have shared numerous stories over the past several years about the benefits of multi-gene testing. And in our next series of videos we are currently scheduling for shooting this Fall, we will be including a couple of particularly compelling stories about the importance of multi-gene testing. While it is wonderful that providers other than genetic counselors and oncologists are ordering germline genetic testing--resulting in many mutations being identified--they can't be expected to be experts in knowing the best tests to order. So in addition to sharing Martha's family's important video to educate about a lesser-known gene mutation that can lead to deadly cancers, this post is also a reminder about the importance of utilizing genetic counselors in ordering tests. Referrals to genetic counselors are easy to make--and just might save a life! Here's the link to Martha, Erin and Nathan's video: https://lnkd.in/gg5-dEP8 #melanoma #pancreaticcancer #CDKN2A #melanomapancreaticcancersyndrome #hereditarycancer #knowyourrisk #familyhealthhistory #genetictesting #genetictestingsaveslives #geneticcounseling #geneticcounselor National Society of Genetic Counselors ConnectMyVariant.org CGA IGC
ASU MS Biomedical Informatics Student
1moThank you, Myriad Genetics. A negative BRCA test and no other gene panel testing could have had disastrous consequences for our family. My previous melanomas could have easily blamed on growing up in Arizona and my mom's cancer history as bad luck. Instead, with our CDKN2A mutation awareness, we now receive critical melanoma and pancreatic surveillance by leading institutions - and caught my 20 year old son's melanomas early. I'm not exactly sure what led to the expanded testing offer from Myriad back in 2016 - but THANK YOU!