نتایج جستجو برای: hereditary diffuse gastric cancer

تعداد نتایج: 1107433  

2018
Haley M Zylberberg Keith Sultan Steven Rubin

Hereditary diffuse gastric cancer (HDGC) is an inherited form of gastric cancer that carries a poor prognosis. Most HDGCs are caused by an autosomal dominant genetic mutation in the CDH1 gene, which carries a 70%-80% lifetime risk of gastric cancer. Given its submucosal origin, endoscopic surveillance is an unreliable means of early detection, and prophylactic gastrectomy is recommended for CDH...

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...

2005
Dimitrios H. Roukos Angelos M. Kappas

rophylactic risk-reducing surgery has been earlier suggested effective to improve survival in individuals selected on the basis of a strong family history. Now, genetic increasing the accuracy of cancer risk estimates allows surgery to target individuals with CDH1 or BRCA1/BRCA2 mutations who are at high risk of developing gastric cancer and breast cancer respectively. Here, we discuss the rein...

Journal: :Clinical genetics 2012
M A Shah E Salo-Mullen Z Stadler J M Ruggeri M Mirander Y Pristyazhnyuk L Zhang

In this report, we describe the first concluded case of a de novo germline mutation in CDH1 in a hereditary diffuse gastric cancer (HDGC) kindred. The incident case was a woman with a personal history of Hodgkin's lymphoma and diffuse gastric cancer, who was then confirmed to have a CDH1 mutation (c.1792 C>T (R598X)). The patient's mother was found to have the same CDH1 germline mutation; howev...

Journal: :Hereditary Cancer in Clinical Practice 2007
Parry Guilford Vanessa Blair Helen More Bostjan Humar

Hereditary diffuse gastric cancer (HDGC) is the only known predisposition syndrome dominated by carcinoma of the stomach and with a recognised genetic cause. Germline mutations in the E-cadherin gene (CDH1) co-segregate with the disease in about half of the families with multiple diffuse gastric cancer. In these families, identification of the CDH1 mutation allows for clinical measures to be ta...

Journal: :Journal of medical genetics 2004
A R Brooks-Wilson P Kaurah G Suriano S Leach J Senz N Grehan Y S N Butterfield J Jeyes J Schinas J Bacani M Kelsey P Ferreira B MacGillivray P MacLeod M Micek J Ford W Foulkes K Australie C Greenberg M LaPointe C Gilpin S Nikkel D Gilchrist R Hughes C E Jackson K G Monaghan M J Oliveira R Seruca S Gallinger C Caldas D Huntsman

BACKGROUND Mutations in the E-cadherin (CDH1) gene are a well documented cause of hereditary diffuse gastric cancer (HDGC). Development of evidence based guidelines for CDH1 screening for HDGC have been complicated by its rarity, variable penetrance, and lack of founder mutations. METHODS Forty three new gastric cancer (GC) families were ascertained from multiple sources. In 42 of these famil...

Journal: :Pathology 2023

Lynch syndrome (LS) is a common hereditary caused by mutations in deoxyribonucleic acid mismatch repair genes, with high probability of gastrointestinal, gynaecological and other cancers. The most LS-associated gastric cancer adenocarcinoma the intestinal type. Neuroendocrine neoplasia has not been well understood cancer. Herein, we report case 68-year-old female, history ascending colon seven ...

2011
Rebecca Wilcox Melody Perpich Amy Noffsinger Mitchell C. Posner Kumarasen Cooper

Hereditary diffuse gastric cancer (HDGC) is a rare, inherited cancer syndrome with at least one fourth of HDGC patients having an autosomal dominantly inherited mutation of CDH1 (E-Cadherin). Penetrance is relatively high (70-80% lifetime risk for gastric cancer). It is important for pathologists to recognize the syndrome's phenotype in early gastric lesions: patchy intramucosal signet ring cel...

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