Genomic landscape in Saudi patients with hepatocellular carcinoma using whole-genome sequencing: a pilot study

Year: 2023

Venue: Frontiers in Gastroenterology

Authors: Mazen Hassanain, Yang Liu, Weam Hussain, Albandri Binowayn, Duna Barakeh, Ebtehal Alsolme, Faisal AlSaif, Ghaida Almasaad, Mohammed AlSwayyed, Maram Alaqel, Rana Aljunidel, Sherin Abdelrahman, Charlotte A. E. Hauser, Saleh Alqahtani, Robert Hoehndorf, Malak Abedalthagafi

DOI: 10.3389/fgstr.2023.1205415

Abstract

Our findings indicate that most of the HCC patients possess cancer-related genetic variants, and the altered pathways in these patients exhibit similarities. Notably, resistant patients exhibit a higher frequency of aberrations in sorafenib-related genes than do sensitive patients. Specifically, 4 out of 10 resistant individuals demonstrated 13 somatic mutations, whereas none of the three sensitive patients exhibited any. Similarly, 7 out of 10 resistant patients possessed 30 germline mutations, while none were observed in the sensitive group (two-sided Fisher's exact test; somatic: <i>p</i>=0.50, germline: 0.07). These results contribute to our understanding of the genetic landscape of HCC and highlight potential therapeutic targets that could aid in overcoming treatment resistance.