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 …
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 …
Ben Huebsch was inspired to become an educator because of his mother’s advice to give back to his community. He loves his job as a middle school principal: he gets a front-row seat to the impact a dedicated staff can have on young lives! He is continuing his mother’s legacy by sharing his firsthand experience with BRCA testing for …
When it comes to breast cancer, Runi Limary has more personal experience than average. She not only spent time working at a nonprofit for people with breast cancer, but she was diagnosed herself at the young age of twenty-eight. When ACLU lawyers reached out to her about the court case regarding BRCA1 and BRCA2 patents to …
My Faulty Gene is a nonprofit organization that provides information and assistance to individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. They believe that everyone in need of genetic testing should have access to it. We sat down with Kathy …
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 …
The adoption of multi-gene panel testing (MGPT) has been a game changer in the hereditary breast cancer arena. As evidence surrounding the growing number of breast cancer predisposition genes has accumulated, ATM, CHEK2, and PALB2 have stood out and become undisputed susceptibility genes conferring a moderate risk for …
I went in for genetic testing because cancer runs in my family: My maternal grandfather had prostate cancer; his sister had an unidentified cancer; my mother died from ovarian cancer; both her sisters have had breast cancer, one of which had bilateral breast cancer, 18 years apart; and 2 of my 3 female cousins have had breast cancer. One cousin …
My story begins more than 9 years ago, when my father called me to say was having genetic testing. His cousin had just been diagnosed with ovarian cancer and had a known BRCA mutation. Many people I’ve spoken with have no idea that they can inherit this from their father, but I did. It is vitally important to meet with a genetic counselor before …
When I was originally diagnosed with breast cancer in 2008, I sought out a multidisciplinary approach to battle my illness, after learning that outcomes tend to be more favorable when compared to following traditional approach. As part of this dynamic approach, I met with various medical and social services professionals. I met with a social …
New clinical evidence collected from >65,000 women with breast cancer demonstrates 83% of positive test results are found in genes that impact clinical management Multi-gene germline genetic testing allows for efficient analysis, maximizing risk assessment while minimizing the time needed for results. This has been particularly effective …
Ribonucleic Acid, otherwise known as RNA, is the messenger that carries instructions for controlling the synthesis of proteins from Deoxyribonucleic Acid (DNA). The central dogma of molecular biology states that “DNA makes RNA makes protein." However, for the proteins, which are the final product, to work properly, the RNA needs to be “edited," …
Breast cancer in men may be rare in the average population, but is far more common in people with an underlying genetic predisposition. Finding a cancer gene mutation in a man with breast cancer can drastically impact medical management for him and his family members (who may otherwise not be screened for the disease). Current guidelines recommend …
The Mauli Ola Foundation has announced the winning team of their 3rd annual Battle for the Breasts (B4TB) online surf contest, as of the end of October, which was also Breast Cancer Awareness month. As a proud sponsor of the competition, Ambry would like to congratulate the winning team of professional surfer, Dimity Stoyle of Maroochydore, Queensland, …
At Ambry we had the exciting opportunity to talk with Dr. Fergus Couch, Mayo Clinic Researcher, about his involvement with our Mayo Clinic research collaboration. “Breast cancer risks associated with mutations in cancer predisposition genes identified by clinical genetic testing of 60,000 breast cancer patients,” which was the largest hereditary …
Genetic testing has become an impactful method for clinicians to help their patients confirm their chances of inheriting a genetic disease. Testing quality is an imperative element in determining a patient’s next steps and whether their family members should also be tested. On November 16th, Ambry CEO Aaron Elliott, PhD and Robina Smith, …
Genetic testing has helped research for breast cancer progress immeasurably, and thanks to some high profile cases, more women are opting for genetic testing when they go in for mammograms and other checkups. As a result, more companies are offering a variety of genetic tests geared towards detecting mutations in the BRCA1 and BRCA2 genes. Though …
In 2016, it is estimated that 246,660 new cases of breast cancer will be diagnosed in women and 2,600 cases in men and out of those cases, only about 5-10% will be hereditary. The most common cause for hereditary breast cancer cases are due to mutations in the BRCA1 and BRCA2 genes. Thanks to recent research at Ambry, it …
In honor of Breast Cancer Awareness month, Ambry is proud to support many non-profit foundations and organizations, including the Mauli Ola Foundation’s 3rd annual Battle for the Breasts (B4TB). The B4TB is an online surf contest featuring 16 professional women surfers who are each paired with cancer clinics and/or foundations. Each …