https://blog.ambrygen.com/list/category/Gene%20Mutation Find the latest Ambry Genetics news by category: Gene Mutation en https://blog.ambrygen.com/list/category/Gene%20Mutation https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/384/the-gene-scene-tgfbr1 This installment of the Gene Scene covers TGFBR1-related Loeys-Dietz Syndrome. Tue, 05 Aug 25 09:01:00 -0700 Ambry Genetics Ambry Blog Gene Mutation https://blog.ambrygen.com/ambry/post/383/the-gene-scene-pcsk9 This installment of the Gene Scene explores PCSK9 variants. Mon, 21 Jul 25 08:30:00 -0700 Ambry Genetics Ambry Blog Gene Mutation https://blog.ambrygen.com/ambry/post/380/the-gene-scene-vhl Each week, we explore a gene from the ACMG Secondary Findings list—genes identified as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early. Wed, 16 Jul 25 00:26:00 -0700 Ambry Genetics Ambry Blog Gene Mutation https://blog.ambrygen.com/ambry/post/357/the-importance-of-tclr-in-mismatch-repair-variant-classification-a-genetic-counselors-perspective Alyssa Valentine, MS, CGC, shares insights into a patient case where the incorporation of TCLR resulted in a major impact on MMR gene variant classification. Wed, 31 Jul 24 05:23:00 -0700 Ambry Genetics Ambry Blog Gene Mutation https://blog.ambrygen.com/ambry/post/340/the-benefits-of-rna-testing-for-neurological-disorders Targeted RNA analysis using whole blood can provide useful information for variant classification in neurological disorders. RNA evidence improves the accuracy of genetic diagnosis of neurological disorders, including reclassifying VUS. Tue, 19 Mar 24 03:17:00 -0700 Ambry Genetics Ambry Blog Gene Mutation https://blog.ambrygen.com/ambry/post/329/the-patient-impact-of-lab-expertise-and-collaboration Chana Ratner, Genetic Counselor at Hackensack University Medical Center, discusses her experience as a clinical genetic counselor. Wed, 17 Jan 24 03:42:00 -0800 Ambry Genetics Ambry Blog Gene Mutation https://blog.ambrygen.com/ambry/post/308/meet-the-gene-team-jeni-herrera-mullar-mgc-cgc-dma-presents-the-gene-of-the-month-msh3 Jeni Herrera-Mullar, MGC, CGC, DMA, Principal Clinical Scientist at Ambry Genetics, explains gene-disease validity and how the science of gene curation has changed over time and introduces the gene of the month MSH3. Tue, 11 Apr 23 01:58:00 -0700 Ambry Genetics Ambry Blog Gene Mutation https://blog.ambrygen.com/patient/post/199/a-q-a-with-my-faulty-gene-founder-kathy-baker Kathy Baker, founder of My Faulty Gene, discusses the importance of genetic testing when it comes to determining hereditary cancer risk. Thu, 10 Nov 22 07:00:00 -0800 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/133/i-survived-cancer-so-why-do-i-need-genetic-testing-for-it As you can see, even if you had cancer many years ago, talking to your healthcare provider about genetic testing may still be important and helpful for you and your family. Fri, 08 Jun 18 08:01:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/216/how-my-genetic-counselor-provided-guidance-when-i-needed-it-most Without my genetic counselor and her guidance, I would have been completely lost. My primary care doctor at the time had no experience at all with the gene mutation, and could not guide me in any way. Thu, 28 Sep 17 18:14:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/ambry/post/175/current-genetic-testing-guidelines-miss-some-families-with-cdh1-mutations A new study aims to describe the clinical characteristics of CDH1 mutation carriers found through MGPT and offer informed recommendations for medical management. Mon, 03 Apr 17 12:06:00 -0700 Ambry Genetics Ambry Blog Gene Mutation https://blog.ambrygen.com/patient/post/167/why-i-liquidated-my-business-to-advocate-for-male-breast-cancer-awareness In December 2013, I was diagnosed with breast cancer and learned that I carried a BRCA2 gene mutation. I was completely uncertain as to my future, and it became clear to me and my brother that now was the right time to make our move. Thu, 16 Mar 17 20:17:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/165/individual-genetic-test-results-lead-to-individual-considerations As a genetic counselor specializing in cancer genetics, I’m happy to be contributing to the Ambry patient blog during National Colorectal Cancer Awareness Month. Thu, 09 Mar 17 08:55:00 -0800 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/31/overcoming-my-death-anxiety-related-to-lynch-syndrome Advocate Georgia Hurst talks about how her Lynch syndrome diagnosis caused her to have death anxiety, recollects about her family’s untimely mortality due to the same diagnosis and how she has come to terms with it. Thu, 05 Jan 17 22:21:00 -0800 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/64/and-now-a-little-something-for-the-men-facing-hereditary-cancer As a female genetic counselor, I can say I have counseled many men regarding their risk for hereditary cancer.  I have seen the different reactions and responses they have had. Thu, 04 Aug 16 19:30:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/68/what-to-expect-regarding-your-health-care-following-the-identification-of-a-brca1-or-brca2-gene-mutation When you learn that you have a BRCA1 or BRCA2 gene mutation, there are naturally questions as to what this will mean for your ongoing medical care and what you will need to do differently. Thu, 28 Jul 16 19:59:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/72/it-s-complicated-sharing-your-genetic-test-results I feel funny writing about sharing genetic test results with family when I’ve never done it myself, but don’t let that stop you from reading… I’ll draw upon my years in the clinic as a genetic counselor, Wed, 20 Jul 16 20:24:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/107/my-doctor-ordered-a-mammogram-but-i-m-a-guy In my opinion, every guy should have the experience of having a mammogram at a women’s clinic… never. Tue, 10 May 16 23:22:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/108/no-mud-no-lotus Zen master Thich Nhat Hanh believes if people face and embrace their suffering, they will eventually grow from it and possibly turn it into something beautiful and meaningful... Mon, 09 May 16 23:24:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/109/fear-of-recurrence-and-mortality I would imagine it’s normal to face some degree of depression, anxiety, and fear when cancer becomes a part of your life. Thu, 05 May 16 23:25:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/111/what-about-the-men-time-for-us-to-man-up For a woman being diagnosed with a BRCA2 gene mutation, there is a ton of information specific to cancers for women, but what if you are a man? Thu, 28 Apr 16 23:29:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/112/sharing-my-diagnosis-and-genetic-testing-with-family-and-friends While it’s difficult for anyone to come to grips with a cancer diagnosis, it becomes more challenging having to share the news with family and friends. Tue, 26 Apr 16 23:30:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/113/previvor-s-perspective-a-daughter-s-feelings It was a year after I had tested positive for the BRCA2 gene mutation before I found out about the status of my three children. My oldest, my son, and my youngest daughter were both negative (huge relief). Fri, 22 Apr 16 23:32:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/115/male-breast-cancer-is-rare-but-it-s-not-that-rarely-inherited When I was a clinical genetic counselor, I met with many men who had been diagnosed with breast cancer for genetic counseling and genetic testing. Thu, 14 Apr 16 23:42:00 -0700 Ambry Genetics Patient Blog Gene Mutation https://blog.ambrygen.com/patient/post/119/a-male-breast-cancer-perspective Cancer is a difficult and tricky disease that tries to destroy us but now we are better prepared to fight back due to a stronger understanding of the disease. Tue, 12 Apr 16 23:58:00 -0700 Ambry Genetics Patient Blog Gene Mutation