Genetic Counseling Note:  TP53 is a gene located on chromosome 17p that is often mutated, or changed, in tumors.  However, some people are born carrying one mutation in the TP53 gene in all of their cells.  These mutations are called germline mutations, and result in Li-Fraumeni Syndrome (LFS).  People with LFS have a high lifetime…

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Last week we held a Tweet Chat with our amazing co-hosts Georgia Hurst and Amy Byer Shainman to hear what our community had to say on the issue of genetic testing in minors. This is a controversial topic with no easy answers, and we were thrilled with the great turnout and information shared. Here are the highlights: Question…

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Yesterday we held a Tweet Chat with our amazing co-hosts Georgia Hurst and Amy Byer Shainman, and special guest Stephanie Goff, MD, of the National Cancer Institute to discuss what you need to know about immunotherapy and Lynch Syndrome related cancers. We were also honored to be joined by Erin Mading, who recently lost her third…

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This month, doctors in Boston will being the BabySeq project, a trial program conducting whole genome sequencing on 240 healthy babies as well as 240 babies in intensive care. The team will look for genetic mutations that are strongly associated with diseases that begin in childhood. Then, a geneticist and genetic counselor will explain the results to parents and…

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