Genetic Testing of Japanese Patients with Serrated Polyposis Syndrome: A Multicentric Study

Overview

Journal J Anus Rectum Colon

Specialty General Surgery

Date 2024 Oct 30

PMID 39473720

Authors

Akinari Takao

Tatsuro Yamaguchi

Hidetaka Eguchi

Yasushi Okazaki

Hideki Ishikawa

Kiwamu Akagi

Hideyuki Ishida

Affiliations

Soon will be listed here.

Abstract

Objectives: Serrated polyposis syndrome (SPS) is a rare condition associated with an increased risk of colorectal cancer. However, the genetic basis of SPS in Japanese patients remains unclear. The present study therefore aimed to address this omission by identifying candidate causative genes of SPS in Japanese patients.

Methods: The present study performed next-generation sequencing using a multigene panel to identify the causative genes in SPS. Whenever a candidate gene was detected, whole exome sequencing of the tumor tissue was performed.

Results: An analysis of 11 patients with SPS identified a germline pathogenic variant of (c.1543G>T/p.Gly515Ter) in a 47-year-old, female patient with transverse colon cancer with more than 50 serrated polyps. She had no history of smoking. None of the canonical, causative genes in common colorectal cancer, such as and , were detected in her lesion. Most of the somatic variants detected in the cancer were transition substitutions (C>T).

Conclusions: was identified as a candidate causative gene in SPS in a non-smoker with the disease. These findings will hopefully contribute to understanding the genetic basis of SPS.

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