نتایج جستجو برای: cdh1 mutations

تعداد نتایج: 174065  

Journal: :The New England journal of medicine 2001
D G Huntsman F Carneiro F R Lewis P M MacLeod A Hayashi K G Monaghan R Maung R Seruca C E Jackson C Caldas

BACKGROUND Germ-line truncating mutations in the E-cadherin (CDH1) gene have been found in families with hereditary diffuse gastric cancer. These families are characterized by a highly penetrant susceptibility to diffuse gastric cancer with an autosomal dominant pattern of inheritance, predominantly in young persons. We describe genetic screening, surgical management, and pathological findings ...

Journal: :European Journal of Cancer 2022

Background: Invasive lobular and ductal breast tumors have distinct histologies clinical presentation. cancer (ILC) characteristics include somatic alterations in the CDH1 gene leading to loss of E-cadherin expression, low HER2 frequent PTEN, increased AKT expression mutations PIK3CA, TBX3 FOXA1 genes. cancers (IDC) express more often HER2+ ESR1 mutations. The XenoSTART Patient-Derived Xenograf...

Journal: :Cancer research 2009
Bostjan Humar Vanessa Blair Amanda Charlton Helen More Iain Martin Parry Guilford

The importance of loss of the cell-cell adhesion molecule E-cadherin (encoded by CDH1) to tumor progression is well established. However, CDH1 germ-line mutations predispose to the cancer susceptibility syndrome hereditary diffuse gastric cancer (HDGC), suggesting a role for E-cadherin in tumor initiation. The earliest indications of cancer in the stomachs of CDH1 mutation carriers are microsco...

2016
Zarina Yelskaya Ruben Bacares Erin Salo-Mullen Joshua Somar Deborah A Lehrich Grace-Ann Fasaye Daniel G Coit Laura H Tang Zsofia K Stadler Liying Zhang

Disease-causing germline mutations in CDH1 cause Hereditary Diffuse Gastric Cancer (HDGC). For patients who meet the HDGC screening criteria, the identification and classification of the sequence variants found in CDH1 are critical for risk management of patients. In this report, we describe a germline CDH1 c.1679C>G (p.T560R) variant identified in a 50 year old man who was diagnosed with gastr...

2017
Soraia Melo Joana Figueiredo Maria Sofia Fernandes Margarida Gonçalves Eurico Morais-de-Sá João Miguel Sanches Raquel Seruca

The role of E-cadherin in Hereditary Diffuse Gastric Cancer (HDGC) is unequivocal. Germline alterations in its encoding gene (CDH1) are causative of HDGC and occur in about 40% of patients. Importantly, while in most cases CDH1 alterations result in the complete loss of E-cadherin associated with a well-established clinical impact, in about 20% of cases the mutations are of the missense type. T...

2016
Baohua Huang Shuo Deng Ser Yue Loo Arpita Datta Yan Lin Yap Benedict Yan Chia Huey Ooi Thuy Duong Dinh Jingli Zhuo Lalchhandami Tochhawng Suma Gopinadhan Tamilarasi Jegadeesan Patrick Tan Manuel Salto-Tellez Wei Peng Yong Richie Soong Khay Guan Yeoh Yaw Chong Goh Peter E. Lobie Henry Yang Alan Prem Kumar Sutherland K. Maciver Jimmy B.Y. So Celestial T. Yap

In gastric cancer (GC), the main subtypes (diffuse and intestinal types) differ in pathological characteristics, with diffuse GC exhibiting early disseminative and invasive behaviour. A distinctive feature of diffuse GC is loss of intercellular adhesion. Although widely attributed to mutations in the CDH1 gene encoding E-cadherin, a significant percentage of diffuse GC do not harbor CDH1 mutati...

Journal: :Journal of medical genetics 2003
I-J Kim J-H Park H C Kang Y Shin S-B Lim J-L Ku H-K Yang K U Lee J-G Park

Gastric cancer is one of the most deadly cancers world wide. Although its incidence has declined in recent years, it is still the most prevalent cancer in Asian countries such as Korea and Japan. Germline mutations of the cell to cell adhesion molecule E-cadherin (CDH1) have been reported in patients with the diffuse type of familial gastric cancer. 3 However, the frequency of CDH1 mutations is...

2003
I-J Kim J-H Park H C Kang J-G Park

Gastric cancer is one of the most deadly cancers world wide. Although its incidence has declined in recent years, it is still the most prevalent cancer in Asian countries such as Korea and Japan. Germline mutations of the cell to cell adhesion molecule E-cadherin (CDH1) have been reported in patients with the diffuse type of familial gastric cancer. 3 However, the frequency of CDH1 mutations is...

2014
Daniel Gaston Samantha Hansford Carla Oliveira Mathew Nightingale Hugo Pinheiro Christine Macgillivray Pardeep Kaurah Andrea L. Rideout Patricia Steele Gabriela Soares Weei-Yuarn Huang Scott Whitehouse Sarah Blowers Marissa A. LeBlanc Haiyan Jiang Wenda Greer Mark E. Samuels Andrew Orr Conrad V. Fernandez Jacek Majewski Mark Ludman Sarah Dyack Lynette S. Penney Christopher R. McMaster David Huntsman Karen Bedard Marshall S. Horwitz

Gastric cancer is among the leading causes of cancer-related deaths worldwide. While heritable forms of gastric cancer are relatively rare, identifying the genes responsible for such cases can inform diagnosis and treatment for both hereditary and sporadic cases of gastric cancer. Mutations in the E-cadherin gene, CDH1, account for 40% of the most common form of familial gastric cancer (FGC), h...

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