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Evidence based guidance for APC I1307K and Cancer Risk

Updated: May 30

Zachariah H Foda, MD, PhD - CGA-IGC Communications Committee

In this episode, hosted by Thomas (TJ) Slavin, MD, Medical Geneticist and Chief Scientific Officer of HALO Precision Diagnostics, Professor Laura Valle, PhD, Principal Investigator at the Catalan Institute of Oncology, discusses the management of individuals with APC I1307K variants. She was recently a lead author on the “Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk” which can be found here.

“It has always has brought discussion and trouble on how to deal with people with this allele. InSiGHT decided to take some action… to see what could be done to improve management. ”- Professor Laura Valle, Catalan Institute of Oncology

Professor Valle highlights points from the position statement that was recently put together. This statement delves into the available data on cancer risk in individuals with this variant. Based on the available evidence the group was able to make recommendations for cancer screening for individuals with I1307K variants, depending on whether or not they were of Ashkenazi Jewish heritage.

They also discusses the areas of future research that are necessary to improve recommendations. These areas include exploring genomic/genetic markers of Ashkenazi Jewish heritage as well as larger prospective cohorts with geographically matched cases and controls. Further evaluation of the biological mechanism of this variant’s cancer risk is also needed.

Listen to the episode here


If you enjoyed this podcast, you may like other episodes in the CGA-IGC Podcast Series (Season 6), and the Journal Club podcast series (Seasons 3, 4 &5) presented by the CGA-IGC Education Committee.

Or explore our Expert Approach to Hereditary Gastrointestinal Cancers podcast series (Seasons 1 and 2).

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