In the fall of 2021, my eighteen-year-old child was making an appointment for an annual check-up, then handed me the phone and said, “Mom, don’t you need a check-up? Didn’t you miss your appointment last year because of COVID?” I had, in fact, missed my annual check-up and mammogram. A few days later, after the check-up and mammogram, I…
Amby Genetics is proud to have worked with a large international team on clarifying the significance of CHEK2 variants. We connected with team leaders Dr. Petra Kleiblova and Dr. Zdenek Kleibl ahead of Breast Cancer Awareness Month. They provided us with the following commentary on the importance of the recent publication, “ENIGMA CHEK2gether…
When it comes to understanding the genetic basis of diseases, evidence plays a crucial role. Gene-disease validity measures the strength of evidence associating pathogenic variants or changes in a gene to a genetic disease or syndrome. In the context of breast cancer, which affects approximately 1 in every 8 women, grasping gene-disease validity…
Amy Byer Shainman, also known as BRCAResponder, is a patient advocate, author, and producer who provides support and education related to having a pathogenic variant in BRCA1/2 or other cancer predisposition genes. We connected with her ahead of National Previvor Day and Hereditary Breast and Ovarian Cancer Week. Amy’s sister was diagnosed…
When Jaime Burguieres was young, her 43-year-old maternal aunt was diagnosed with breast cancer. Burguieres watched her vivacious aunt go through painful radiation and chemotherapy treatments that seemingly eradicated her cancer at the time. A few years later, her aunt was diagnosed with Non-Hodgkin’s Lymphoma in the breast, stomach, and hip,…
Previvor: A person who has not been diagnosed with cancer, but has survived the predisposition, or higher risk, due to certain genetic mutations.* Breast cancer. Spoken in hushed tones, these scary words are often compounded by the aftermath of breast cancer deaths, creating a stigma around discussing breast cancer in regular conversations. With…
From the moment I was diagnosed with breast cancer I knew there was something bigger out there for me. I've always believed that. I trusted that my cancer journey would bring me just one step towards whatever that 'bigger' is in my life. I’m a 37 year-old single mom to an incredible, hockey-playing, boxing 10 year-old boy, and about three years…
*Editor's Note: In honor of Family History Day, which is on Thanksgiving, Eve Mart is sharing the story how hereditary cancer has shaped her relationship with her mother, and how genetic testing may have been able to help change the course of her mother's health. I often tell women “be your own best advocate”, and I truly mean it.…
My name is Valerie Smart. I’m a wife and mother with three beautiful children, two boys and a girl. And I am an 18 year breast cancer survivor. This is my story. I was diagnosed with a stage II ductal carcinoma (a type of breast cancer) in August of 2000. I had eight cycles of chemotherapy and 30 days of radiation followed by Tamoxifin. I lost…
I like to prepare for the worst but hope for best. When I started chemotherapy for my breast cancer, I knew what it meant for my hair and body. I was aware of the side effects and what each cycle could bring. To physically get my body ready for chemo I did a few things that might sound trite or shallow, but I knew they would help me feel somewhat…