Article
Identification of New Pathogenic Variants of Hereditary Diffuse Gastric Cancer.
Cancer research and treatment - 1 Oct 2024
Oh Seung-Young, Jang Giyong, Kim Jaeryuk, Jeong Kyoung-Yun, Kim Hyun Myong, Kwak Yoon Jin, Kong Seong-Ho, Park Do Joong, Lee Hyuk-Joon, Cho Sung-Yup, Kim Jong-Il, Yang Han-Kwang
Abstract excerpt
PURPOSE: Hereditary diffuse gastric cancer (HDGC) presents a significant genetic predisposition, notably linked to mutations in the CDH1 and CTNNA1. However, the genetic basis for over half of HDGC cases remains unidentified. The aim of this study is to identify novel pathogenic variants in HDGC...
Topics
- Humans
- Stomach Neoplasms
- Male
- Genetic Predisposition to Disease
- Female
- Pedigree
- Germ-Line Mutation
- rhoA GTP-Binding Protein
- Middle Aged
- Adult
- Exome Sequencing
- Whole Genome Sequencing