Lift for Li Fraumeni syndrome #Lift4LFS

Last week I was lucky enough to attend a conference called the “Familial Aspects of Cancer Research + Practice”. This annual conference is arranged by the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer or kconfab for short. It is attended by scientists working in familial cancer from all over Australasia and the world and is also attended by genetic counsellors and doctors as well. There are presentations about many different aspects of cancer that runs through the family, but my favourite talk this year was by the Li Fraumeni association of Australasia.

Li Fraumeni syndrome (LFS) is a genetic condition where people with a gene change (mutation) in a gene called tp53 live with a high predisposition to developing cancer. People have a 50% chance of developing their first cancer by the age of 50 and up to a 100% chance of having cancer by the age of 80. LFS follows what is known as an autosomal dominant meaning that when a person with LFS has a child, there is a 50% or 1 in 2 chance of passing this changed gene on. The tp53 is often referred to as the “guardian” of the genome meaning that when there is a mistake or fault in this gene, it can have a devastating effect on the body.

The Li – Fraumeni Syndrome Association (LFSA) was created in the USA in 2010 as a way of providing and facilitating advocacy, support and information for those affected by LFS. The Australia and New Zealand chapter of the Li – Fraumeni Syndrome Association has recently launched. The mission of the LSFA is to bring together medical practitioners, researchers and scientists, patients and caregivers to further good research and care of individuals and families with LFS. Check out their video on youtube!

www.lfsassociation.org

www.kconfab.org

#lift4LFS

 

Factsheet:

https://rarediseases.org/rare-diseases/li-fraumeni-syndrome/

Resources:

http://www.geneticalliance.org.au/conditions_detail.php?Li-Fraumeni-syndrome-322

LFS video

https://www.youtube.com/watch?v=Bh3otLnixyg

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