Terry Fox-funded researcher Dr. David Malkin, The Hospital for Sick Kids, Toronto, Ontario, was in Columbus, Ohio this week to co-lead the 2016 International Li-Fraumeni Syndrome (LFS) Conference. TFRI funds two projects led by Dr. Malkin, including one focusing solely on LFS.
LFS is caused by inherited mutations in a gene called TP53, one of the most frequently mutated genes in human cancers, affecting around one in 1,000 to 5,000 people. The TP53 gene plays a significant role in suppressing tumour growth, which is compromised in people with LFS, thus increasing their risk of developing many cancers at an early age.
Patients have an almost 100 per cent chance of developing cancer in their lifetime – in any body part and at any age – and treatment options are limited.
“The challenges faced by these children and [their] families are devastating,” said Dr. Malkin. “It’s like a ticking time bomb waiting for the next cancer to develop, and we don’t clearly have any effective ways to treat LFS any different than how we treat any other cancer.”
More than 200 people attended the conference, which was hosted by the Li-Fraumeni Syndrome Association (LFSA). Around half of the participants were leading researchers, clinicians, and genetic counsellors from around the world; the remainder were families affected by the devastating disease – with some coming from as far away as Brazil and New Zealand.
“This is an amazing opportunity to collaborate and combine worlds to try and figure this disease out,” said Dr. Malkin at the conference’s opening. “We will get the answers by blending the two worlds and working together – and only by working together.”
Other conference partners included Soccer for Hope, Nationwide Children’s Hospital, and The Ohio State University.