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Poster display session

3530 - Assessing Cancer Risk in Patients with HFE gene variants and Type 1 Hereditary Hemochromatosis.


09 Sep 2017


Poster display session


Translational Research;  Gastrointestinal Cancers


Kimberley Youkhana


Annals of Oncology (2017) 28 (suppl_5): v209-v268. 10.1093/annonc/mdx369


K. Youkhana1, V. Tutaeva1, H. Williams1, O. Corbali2, S. Krishnamurthy3, R. Metpally3, N. Kip1

Author affiliations

  • 1 Medical Oncology, Geisinger Medical Center, 17822 - Danville/US
  • 2 Faculty Of Medicine, Istanbul University, 17821 - Istanbul/TR
  • 3 Bioinformatics, Geisinger Medical Center, 17822 - Danville/US


Abstract 3530


Patients with type 1 hereditary hemochromatosis are reported to have a 20-200-fold increased risk of hepatocellular carcinoma. However, not much is known about the risk of developing non-hepatobiliary cancers in these patients or those heterozygous for HFE variants. The purpose of this study is to assess the risk of non-hepatobiliary cancers in a large cohort.


Using the Geisinger-Regeneron DiscovEHR cohort, we sequenced whole exomes of 51,289 study participants to further analyze the HFE gene variations (C2892Y, H63D or S65C) for risk of cancer development. The cancer prevalence and statistical significance was assessed in both genders from multiple HFE genotypes.


There were 51, 270 participants in this study: 30, 280 (59%) women and 20, 990 (41%) men. There was an increased risk of cancer overall among patients who harbored one or more HFE gene mutation (Kruskal-Wallis; p 


To our knowledge, this is the first whole exome sequencing study analyzing the HFE gene variants for cancer risk in over 50 thousand individuals. This study showed that cancer risk is increased in both HFE variants and non-HFE variants carriers and that cancer screening should be considered in this cohort.

Clinical trial identification

Legal entity responsible for the study

Geisinger Medical Center and Regeneron Pharmaceuticals


Regeneron Pharmaceuticals


All authors have declared no conflicts of interest.

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