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...

Lynch Syndrome Awareness Day 2016

Lynch Syndrome Awareness Day 2016 Lynch Syndrome Awareness Day is March 22nd and during Colon Awareness Month, it is important to note that 5% of all colorectal cancers are due to Lynch syndrome. Unfortunately, Lynch syndrome may hold implications for various cancers, dependent upon which mutation you hold. Lynch syndrome is an inherited cancer susceptibility syndrome caused by mutations in one of five DNA mismatch repair (MMR) genes. It is passed down in families in a pattern called autosomal dominant, meaning that each child has a… more...

Global Lynch syndrome advocacy

  Global Lynch syndrome advocacy… A strong family history of colon cancer and early deaths within my immediate family forced me to take drastic measures when I discovered I have one of the Lynch syndrome mutations. My horrible experience from the loss of my reproductive organs and the lack of information on the emotional aspects of having Lynch syndrome on the Internet four years ago was the impetus for my blog: ihavelynchsyndrome.org. I wanted to share my story because I knew there must have been others… 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...

#Lschat

Much gratitude to Amy Byer Shainman (@BRCAresponder) and Ellen Matloff of MyGeneCounsel (@MyGeneCounsel) for helping me moderate the #Lschat. If you’re interested in seeing the transcripts and analytics, please go here: http://goo.gl/75cDGi. We reached almost 7 MILLION people with our chat! I’m deeply honored and grateful for everyone who participated in helping us get the word out about the emotional implications of having a hereditary cancer syndrome. I will keep you posted on the next #Lschat. Yours, xogox

Be Strong …

Be strong … Happy Monday to all of you! Chicago was blanketed in almost 20″ of snow this weekend so everything is pretty much shut down until the City cleans this glistening white mess up. Lots going on in the Lynch syndrome advocacy front — I was recently interviewed for a podcast and wrote a piece for an international medical journal, I will let you know when those both come out but in the meantime we’re having our 2nd #Lschat this Sunday at 12pm CST!  Genetic counselor extraordinaire… more...

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