Resolving gastric cancer aetiology: an update in genetic predisposition

Paul C. Lott, Luis Carvajal-Carmona

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations


Every year gastric cancer accounts for nearly 1 million new cases and more than 720 000 deaths worldwide. Prognosis is dismal because most patients are diagnosed with advanced disease; as such, gastric cancer outcomes will benefit from better methods for identification of at-risk individuals that can be targeted for early detection. One approach to targeting high-risk populations is to identify individuals who are genetically predisposed to gastric cancer, as up to 15% of all patients report family history of the disease. On the basis of clinical manifestations, three gastric cancer syndromes have been described, but the diagnosis of some of these syndromes is suboptimal and could benefit from genetic information. Over the past decade, genome-wide association and next-generation sequencing studies have identified several low penetrance variants and high-risk genes, considerably increasing our understanding of inherited gastric cancer predisposition. From these studies, PALB2 has emerged as a new familial gastric cancer gene. Furthermore, genetic analyses in patients with sporadic gastric cancer suggest that more than 10% of all cases have pathogenic mutations, a finding of great importance for cancer aetiology. In this Review, we summarise the role of genetics in gastric cancer aetiology and the implications of genetics findings for the prevention of this malignancy.

Original languageEnglish (US)
Pages (from-to)874-883
Number of pages10
JournalThe Lancet Gastroenterology and Hepatology
Issue number12
StatePublished - Dec 1 2018

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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