NCI: Lynch Syndrome Workshop and Shining Light on Cowden Syndrome

  Approaches to Blue Ribbon Panel Recommendations: The Case of Lynch Syndrome The National Cancer Institute (NCI) is convening a Workshop on February 22–23, 2017, in Rockville, Maryland, to discuss issues related to cancer genetic testing approaches, current practices, and resources for case and family ascertainment in hereditary cancers, using Lynch syndrome as an example. Lynch syndrome is a genetically inherited disorder that increases the risk of colorectal and endometrial cancers and several other malignancies. It is estimated that in the United States, up to 1 million people live with… more...

Guardian of the Genome: An Overview of Li-Fraumeni Syndrome

Li-Fraumeni syndrome When I was initially diagnosed with Lynch syndrome, I became highly interested in other hereditary cancer syndromes and wanted to learn as much about them as I could. Reading about them gave me tremendous perspective. The more I read, the more I recognized the parallels between them … there may be some different cancer manifestations of these syndromes but for the most part the emotional gravity of having a hereditary cancer syndrome is the same. -Georgia You may be familiar with the BRCA genes and Lynch syndrome, but… more...

What is PGD? How Can It Help Those with Lynch syndrome?

What is Preimplantation Genetic Diagnosis and How Can It Help Those with Lynch syndrome?  Preimplantation genetic diagnosis (PGD) was introduced in 1990 and has provided a way to screen embryos for genetic conditions, chromosomal abnormalities, and mitochondrial disorders. This method enables couples to perform an embryo genetic analysis before transferring the embryo to the uterus during an in vitro fertilization (IVF) cycle. Before the introduction of PGD, the only option available to couples with a hereditary genetic condition was to naturally conceive and then perform prenatal testing, such… more...

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers Do you have Lynch syndrome or a Lynch syndrome related cancer? Then you most definitely do not want to miss this #Hcchat on Twitter. We will be discussing immunotherapy and Lynch cancers with Stephanie Goff, MD,  from the NIH. February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers If you are unable to participate then please note that you may access the transcript on February 19th here: more...

Ellen Matloff Unplugged

Ellen Matloff Unplugged I was on the phone one day last winter with Amy Byer Shainman, my BRCA #BFF, and we were talking about starting #Lschat (Lynch syndrome Chat) on Twitter. Lynch syndrome was in dire need of a strong media presence on Twitter and so that is when I decided to begin #Lschat (Lynch syndrome chat). Amy and I had participated on various other Twitter chats and wanted to mix things up a bit by bringing an expert onboard; I wanted to be sure we were providing our audience with… more...

“Mutation” of the Month: FAP by Genetic Counselor, Sarah Witherington

First, before every genetics person writes me an email regarding my use of the word mutation, please let me explain. I chose the title because it’s nice having two M’s together, it looks and sounds nicer frankly than saying “Genetic Syndrome of the Month”, and because it will give me a chance to explain exactly what is a mutation. This “mutation” of the month column will become a monthly blog and so it’s even more important to make sure we are all on the same page. Try to remember… more...

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