نتایج جستجو برای: hereditary diffuse gastric cancer

تعداد نتایج: 1107433  

Journal: :JAMA Oncology 2015

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...

Journal: :Cardiovascular Therapy and Prevention 2023

Hereditary angioedema is a rare (1:50,000) hereditary chronic disease from the group of primary immunodeficiencies, which manifests in form recurrent skin and mucous membrane edema respiratory tract gastrointestinal tract. Pathogenesis this are associated with an increased risk number cardiovascular pathologies, complexity management choosing optimal treatment methods. This case report demonstr...

Journal: :Surgery 2011
Prakash K Pandalai Greg Y Lauwers Daniel C Chung Devanshi Patel Sam S Yoon

BACKGROUND Germline mutation of the CDH1 gene, which encodes for the E-cadherin adhesion protein, is rare but confers an estimated lifetime risk of hereditary diffuse gastric cancer of 87%. Fewer than 100 prophylactic total gastrectomies have been reported for this condition. METHODS Patients with germline CDH1 mutation who underwent multidisciplinary counseling followed by prophylactic total...

2018
Dandan Li Winifred Lo Udo Rudloff

Hereditary diffuse gastric cancer is a cancer predisposition syndrome associated with germline mutations of the E-cadherin gene (CDH1; NM_004360). Male CDH1 germline mutation carriers have by the age of 80 years an estimated 70% cumulative incidence of gastric cancer, females of 56% for gastric and of 42% for lobular breast cancer. Metastatic HDGC has a poor prognosis which is worse than for sp...

2005
D Shaw

Background: Hereditary diffuse gastric cancer (HDGC) is defined by germline mutations in the E-cadherin gene, CDH-1. The first family in which CDH-1 mutations were identified was a large Maori kindred, where lifetime penetrance is 70%. Prophylactic gastrectomy is an unacceptable option for many mutation carriers. The results of annual chromoendoscopic surveillance using the methylene blue/congo...

Journal: :Annals of surgery 2017
Vivian E Strong Sepideh Gholami Manish A Shah Laura H Tang Yelena Y Janjigian Mark Schattner Luke V Selby Sam S Yoon Erin Salo-Mullen Zsofia K Stadler David Kelsen Murray F Brennan Daniel G Coit

OBJECTIVE The aim of this study was to describe postoperative outcomes of total gastrectomy at our institution for patients with hereditary diffuse gastric cancer (HDGC). BACKGROUND HDGC, which is mainly caused by germline mutations in the E-cadherin gene (CDH1), renders a lifetime risk of gastric cancer of up to 70%, prompting a recommendation for prophylactic total gastrectomy. METHODS A ...

2011
K A Schrader S Masciari N Boyd C Salamanca J Senz D N Saunders E Yorida S Maines-Bandiera P Kaurah N Tung M E Robson P D Ryan O I Olopade S M Domchek J Ford C Isaacs P Brown J Balmana A R Razzak P Miron K Coffey M B Terry E M John I L Andrulis J A Knight F P O'Malley M Daly P Bender R Moore M C Southey J L Hopper J E Garber D G Huntsman

BACKGROUND Germline mutations in CDH1 are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs excessively in families with such condition. METHOD To determine if CDH1 is a susceptibility gene for lobular breast cancer in women without a family history of diffuse gastric cancer, germline DNA was analysed for the presence of CDH1 mutations in 318 women with lobu...

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