I discovered Li-Fraumeni syndrome in 2017, after breast cancer at the age of 20. The oncologist requested genetic testing, and I was fortunate to receive the diagnosis from a very humane specialist, who has been accompanying me ever since, always providing clear and accurate information about the syndrome. Today, 7 years later, I'm doing
I lost my mother to cancer in 2018. She had two types: lung carcinoma and brain astrocytoma. They mentioned it could be genetic at the time, but we didn't give it much importance. I had lung adenocarcinoma at 38 years old in 2021, during the COVID period, so it seemed quick. I didn't need chemo
I discovered LFS in 2022 after treatment for advanced breast cancer! I needed to take the test because I lost many paternal relatives to cancer, none of them had the same cancer as mine. I am in remission, taking daily medications at home, and receiving quarterly injections to control hormones. I’ve learned To take
I discovered the syndrome through genetic testing after battling breast cancer and undergoing bilateral mastectomy. Today, I find myself navigating new paths, undergoing screening exams. It has taught me a valuable lesson: never to give up, to summon strength, believe, and always have faith in God.
I discovered Li-Fraumeni syndrome one week before quadrant surgery for breast cancer. I found out about the cancer in April 2023, underwent chemotherapy, and reduced it to the point where only the quadrant would be removed. However, after genetic testing, everything changed. Today, I'm undergoing immunotherapy, and I believe it will continue until October. I
I discovered that I have Li-Fraumeni syndrome in 2021. At the time, my mastologist asked me for a genetic test due to the extensive history of cancer in my family (mother, uncle, grandmother, among others). I have never had any type of cancer. In 2022 I chose to perform a preventive bilateral mastectomy.I follow
WHAT DOES IT MEAN TO BE A KICK-ASS FAIRY? Looking for a fairy tale to make into a musical? Look somewhere else. Linda Zercoe offers up a series of unfortunate events in a memoir that rivals the stories of the Brothers Grimm. Life can be capricious and cruel. In this memoir, the author-heroine faces
Larry Ingrassia’s, A Fatal Inheritance, is the most comprehensive biography of Li-Fraumeni syndrome for the lay reader to date. Though this book reads like a riveting medical mystery, it is also an informative resource for medical students and providers, genetic counselors, and families riddled with early onset, rare, and/or multiple cancers, and even the
With advances in genetic testing, researchers and providers have been facing challenges in interpreting the pathogenic variants of TP53. Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. (2019)
Published by AACR in 2017, this publication was written by some of the invaluable members of LFSA's Genetic Counseling Advisory Group. In this article, the authors present a genetic counseling framework for oncology professionals. They discuss key points of entry and offer recommendations on when and how to provide initial and follow-up genetic counseling
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