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hereditary diffuse gastric cancer

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https://www.readbyqxmd.com/read/29178089/-current-status-of-hereditary-gastrointestinal-neoplasms
#1
Yulong He
Gastric cancer and colorectal cancer are two common malignant tumors in digestive tract. 1% to 3% of gastric cancer and 5% to 15% of colorectal cancer are definitely hereditary cancer caused by germline gene mutation. Hereditary gastric cancer includes hereditary diffuse gastric cancer(HDGC) and hereditary intestinal gastric cancer (HIGC). CDH1 gene mutation is the main reason to cause HDGC, so the first degree and the second degree family members of HDGC patients are recommended to receive CDH1 mutation detection, endoscopic examination every year and undergo preventive total gastrectomy...
November 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/29168119/clinical-and-biological-significance-of-a-%C3%A2-73a%C3%A2-%C3%A2-c-variation-in-the-cdh1-promoter-of-patients-with-sporadic-gastric-carcinoma
#2
Baozhen Zhang, Jing Zhou, Zhaojun Liu, Liankun Gu, Jiafu Ji, Woo Ho Kim, Dajun Deng
BACKGROUND: CDH1 germline mutations lead to hereditary diffuse gastric carcinomas. However, it is unclear whether genetic variations in the CDH1 promoter affect the progression of sporadic gastric carcinomas (SGCs). METHODS: SGC patients in two independent cohorts with follow-up data were enrolled. The CDH1 genotypes, including the - 73A > C polymorphism (rs28372783), were determined by PCR sequencing. The CDH1 promoter activity was determined using reporter assays...
November 22, 2017: Gastric Cancer
https://www.readbyqxmd.com/read/29131691/a-new-mutation-of-the-cdh1-gene-in-a-patient-with-an-aggressive-signet-ring-cell-carcinoma-of-the-stomach
#3
Laura Caggiari, Gianmaria Miolo, Vincenzo Canzonieri, Mariangela De Zorzi, Lara Alessandrini, Giuseppe Corona, Renato Cannizzaro, Davide Adriano Santeufemia, Antonio Cossu, Angela Buonadonna, Valli De Re
Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs "E-cadherin" to bind with itself each others...
November 13, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29115925/synchronous-occurrence-of-hereditary-gastric-adenocarcinoma-gastrointestinal-stromal-tumor-and-esophageal-small-cell-and-squamous-carcinoma-in-situ-an-extremely-rare-case-report
#4
Huijie Fan, Pei Lu, Li Xu, Yanru Qin, Jing Li
BACKGROUND: Hereditary diffuse gastric carcinoma (HDGC) accounts for 1-3% of all gastric carcinomas. Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal (GI) tract but they comprise fewer than 1% of all GI malignancies. Small-cell carcinoma (SmCC) is a rare histological type of esophageal carcinoma, accounting for 0.4% to 2.8% of all esophageal tumors. Co-occurrence of SmCC with esophageal tumors caused by squamous carcinoma is also very uncommon...
November 7, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29103540/emerging-concepts-in-gastric-neoplasia-heritable-gastric-cancers-and-polyposis-disorders
#5
REVIEW
Rachel S van der Post, Fátima Carneiro
Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. Gastric adenocarcinoma and proximal polyposis of the stomach is a hereditary cancer syndrome caused by germline mutations in promoter 1B of APC. Other well-defined cancer syndromes, such as Lynch, Li-Fraumeni, and hereditary breast or ovarian cancer syndromes, are associated with increased risk of gastric cancer...
December 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/28993866/cdh1-mutation-screen-in-a-brca1-2-negative-familial-breast-ovarian-cancer-cohort
#6
Frederik Stuebs, Simone Heidemann, Almuth Caliebe, Christoph Mundhenke, Norbert Arnold
PURPOSE: Mutations in the CDH1 gene are linked both to diffuse gastric cancer and invasive lobular carcinoma (ILC). A high mutation rate is found in families fulfilling the diagnostic criteria for hereditary diffuse gastric cancer. Aim of this study was to clarify whether or not there is a significant contribution of CDH1 mutations in hereditary breast-/ovarian cancer (HBOC). METHODS: Ninety-seven unrelated probands fulfilling the diagnostic criteria for HBOC (96 affected, 1 unaffected) but tested negative for pathogenic BRCA1/2 mutations were screened for CDH1 mutations by denaturing high performance liquid chromatography (DHPLC) and subsequent Sanger sequencing of suspicious and positive DHPLC results...
October 9, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28808875/ssat-state-of-the-art-conference-current-surgical-management-of-gastric-tumors
#7
Jeffrey A Norton, Teresa Kim, Joseph Kim, Martin D McCarter, Kaitlyn J Kelly, Joyce Wong, Jason K Sicklick
INTRODUCTION: The current era of gastric surgery is marked by low morbidity and mortality rates, innovative strategies to approach resections with a minimally invasive fashion or hyperthermic intraperitoneal chemotherapy (HIPEC), as well as improved understanding of the biology of sporadic and hereditary stromal, neuroendocrine, and epithelial malignancies. METHODS: In 2017, the Society for Surgery of the Alimentary Tract convened a State-of-the-Art Conference on Current Surgical Management of Gastric Tumors with both international experts and emerging leaders in the field of gastric surgery...
August 14, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28702897/hereditary-diffuse-gastric-cancer-and-lynch-syndromes-in-a-brca1-2-negative-breast-cancer-patient
#8
Scolastica W Njoroge, Kelly R Burgess, Melody A Cobleigh, Hussein H Alnajar, Paolo Gattuso, Lydia Usha
INTRODUCTION: Genetic counseling and testing is recommended for women with a personal and/or family history of breast and other cancers (ovarian, pancreatic, male breast and others). Mutations in the BRCA1 and BRCA2 genes (BRCA1/2) are the most common causes of hereditary breast and ovarian cancer. Additional genetic counseling and testing with a multi-gene panel may be considered in breast cancer patients who tested negative for mutations in these two genes. In about 11% of BRCA1/2-negative patients, further genetic testing reveals pathogenic mutations in other high or moderate cancer risk genes...
November 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28688938/a-comparative-study-of-endoscopic-surveillance-in-hereditary-diffuse-gastric-cancer-according-to-cdh1-mutation-status
#9
Emma Z Mi, Ella Z Mi, Massimiliano di Pietro, Maria O'Donovan, Richard H Hardwick, Susan Richardson, Hisham Ziauddeen, Paul C Fletcher, Carlos Caldas, Marc Tischkowitz, Krish Ragunath, Rebecca C Fitzgerald
BACKGROUND AND AIMS: Hereditary diffuse gastric cancer (HDGC) accounts for 1% of gastric cancer cases. For patients with a germline CDH1 mutation, risk-reducing gastrectomy is recommended. However, for those delaying surgery or families with no causative mutation identified, regular endoscopy is advised. This study aimed to determine the yield of signet ring cell carcinoma (SRCC) foci in individuals with a CDH1 pathogenic variant compared with those without and how this varies with successive endoscopies...
July 5, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28484856/-hereditary-gastric-and-pancreatic-cancer
#10
REVIEW
C Langner
Most cases of gastric and pancreatic cancer are sporadic, but familial clustering can be observed in approximately 10% of cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and two syndromes have been characterized: hereditary diffuse gastric cancer (HDGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Gastric and pancreatic cancer can develop in the setting of other hereditary cancer syndromes, such as hereditary breast and ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome, Lynch syndrome, familial adenomatous polyposis (FAP), or various hamartomatous polyposis syndromes, including juvenile polyposis and Peutz-Jeghers syndrome...
May 2017: Der Pathologe
https://www.readbyqxmd.com/read/28469042/systemic-treatment-strategies-for-patients-with-hereditary-breast-cancer-syndromes
#11
Amanda Parkes, Banu K Arun, Jennifer K Litton
Hereditary breast cancer syndromes are associated with an increased risk of breast cancer and constitute a unique patient population, making up approximately 5%-10% of breast cancer cases in the United States. By virtue of the germline mutations that define these syndromes, invasive breast cancers in these patients have unique mechanisms that can be rationally targeted for therapeutic opportunities distinct from standard of care treatments in nongermline mutation associated breast cancers. This review intends to describe existing data on several of the most common hereditary breast cancer syndromes, including BRCA-related breast cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer syndrome, specifically focusing on rational therapeutics utilized in these distinct patient subgroups and completed or ongoing clinical trials evaluating their efficacy...
June 2017: Oncologist
https://www.readbyqxmd.com/read/28460635/transcriptomic-profiling-and-quantitative-high-throughput-qhts-drug-screening-of-cdh1-deficient-hereditary-diffuse-gastric-cancer-hdgc-cells-identify-treatment-leads-for-familial-gastric-cancer
#12
Ina Chen, Lesley Mathews-Greiner, Dandan Li, Abisola Abisoye-Ogunniyan, Satyajit Ray, Yansong Bian, Vivek Shukla, Xiaohu Zhang, Raj Guha, Craig Thomas, Berkley Gryder, Athina Zacharia, Joal D Beane, Sarangan Ravichandran, Marc Ferrer, Udo Rudloff
BACKGROUND: Patients with hereditary diffuse gastric cancer (HDGC), a cancer predisposition syndrome associated with germline mutations of the CDH1 (E-cadherin) gene, have few effective treatment options. Despite marked differences in natural history, histopathology, and genetic profile to patients afflicted by sporadic gastric cancer, patients with HDGC receive, in large, identical systemic regimens. The lack of a robust preclinical in vitro system suitable for effective drug screening has been one of the obstacles to date which has hampered therapeutic advances in this rare disease...
May 1, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28455161/outcomes-of-screening-gastroscopy-in-first-degree-relatives-of-patients-fulfilling-hereditary-diffuse-gastric-cancer-criteria
#13
Rachel S van der Post, Jolanda van Dieren, Anna Grelack, Nicoline Hoogerbrugge, Lizet E van der Kolk, Petur Snaebjornsson, Iris Lansdorp-Vogelaar, J Han van Krieken, Tanya M Bisseling, Annemieke Cats
BACKGROUND AND AIMS: The aim of this study was to determine the yield of endoscopic screening in first-degree relatives (FDRs) of CDH1-negative hereditary diffuse-type gastric cancer (HDGC) patients. METHODS: In this retrospective observational cohort study, in 2 expert centers in the Netherlands data were collected on FDRs from families fulfilling the international HDGC criteria that underwent endoscopic screening. Extensive inspection of the stomach was performed by gastroscopy, taking random and/or targeted stomach biopsy specimens to identify diffuse-type gastric cancer...
April 25, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28301459/blepharocheilodontic-syndrome-is-a-cdh1-pathway-related-disorder-due-to-mutations-in-cdh1-and-ctnnd1
#14
Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier-Hanu
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency...
September 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28275686/historical-perspective-on-familial-gastric-cancer
#15
REVIEW
C Richard Boland, Matthew B Yurgelun
Gastric cancer is a common disease worldwide, typically associated with acquired chronic inflammation in the stomach, related in most instances to infection by Helicobacter pylori. A small percentage of cases occurs in familial clusters, and some of these can be linked to specific germline mutations. This article reviews the historical background to the current understanding of familial gastric cancer, focuses on the entity of hereditary diffuse gastric cancer, and also reviews the risks for gastric cancer related to a number of other familial genetic diseases...
March 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28204904/high-risk-individuals-perceptions-of-reproductive-genetic-testing-for-cdh1-mutations
#16
Nina Hallowell, Shirlene Badger, Sue Richardson, Carlos Caldas, Richard H Hardwick, Rebecca C Fitzgerald, Julia Lawton
Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)-for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK. This qualitative interview study examined high-risk individuals' (n = 35) views of CDH1 reproductive genetic testing. Interviewees generally regarded reproductive genetic testing as an acceptable form of HDGC risk management. However, some were concerned that their genetic risks required them to plan reproduction and anticipated difficulties communicating this to reproductive partners...
February 15, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28024868/germline-mutations-in-palb2-brca1-and-rad51c-which-regulate-dna-recombination-repair-in-patients-with-gastric-cancer
#17
Ruta Sahasrabudhe, Paul Lott, Mabel Bohorquez, Ted Toal, Ana P Estrada, John J Suarez, Alejandro Brea-Fernández, José Cameselle-Teijeiro, Carla Pinto, Irma Ramos, Alejandra Mantilla, Rodrigo Prieto, Alejandro Corvalan, Enrique Norero, Carolina Alvarez, Teresa Tapia, Pilar Carvallo, Luz M Gonzalez, Alicia Cock-Rada, Angela Solano, Florencia Neffa, Adriana Della Valle, Chris Yau, Gabriela Soares, Alexander Borowsky, Nan Hu, Li-Ji He, Xiao-You Han, Philip R Taylor, Alisa M Goldstein, Javier Torres, Magdalena Echeverry, Clara Ruiz-Ponte, Manuel R Teixeira, Luis G Carvajal-Carmona
Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with hereditary diffuse gastric cancer (HDGC) not associated with mutations in CDH1 and performed whole-exome sequence analysis. We then analyzed sequences of candidate genes in 333 independent HDGC and non-HDGC cases. We identified 11 cases with mutations in PALB2, BRCA1, or RAD51C genes, which regulate homologous DNA recombination...
April 2017: Gastroenterology
https://www.readbyqxmd.com/read/28008412/prophylactic-total-gastrectomy-for-hereditary-diffuse-gastric-cancer
#18
Benjamin Shepard, Leon Yoder, Cynthia Holmes
Germline mutations in the CDH1 gene that produces E-cadherin have been implicated in the development of early-onset diffuse gastric cancer, termed hereditary diffuse gastric cancer. The mean age of gastric cancer diagnosis in affected individuals is 37 years. By age 80, CDH1 mutation carriers who fulfill the clinical criteria for hereditary diffuse gastric cancer have an estimated lifetime risk of gastric cancer development of 67% for men and 83% for women. Data suggest that endoscopic surveillance for mutation carriers is largely ineffective...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27995194/early-diagnosis-of-hereditary-diffuse-gastric-cancer-not-only-an-endoscopic-challenge
#19
EDITORIAL
Catarina Brandão, Mário Dinis-Ribeiro
No abstract text is available yet for this article.
December 2016: Endoscopy International Open
https://www.readbyqxmd.com/read/27995193/chromoendoscopy-in-combination-with-random-biopsies-does-not-improve-detection-of-gastric-cancer-foci-in-cdh1-mutation-positive-patients
#20
Robert Hüneburg, Tim Marwitz, Peer van Heteren, Tobias J Weismüller, Jonel Trebicka, Ronja Adam, Stefan Aretz, Alberto Perez Bouza, Dimitrios Pantelis, Jörg C Kalff, Jacob Nattermann, Cristian P Strassburg
Background and study aims: Hereditary diffuse gastric cancer (HGGC), an autosomal dominant tumor-syndrome, accounts for 1 % to 3 % of gastric cancers worldwide. Presumably 30 % to 40 % of all patients fulfilling the clinical guidelines for HDGC are carriers of a pathogenic mutation in the CDH1 gene. Patients often show multiple foci of signet ring cell carcinoma at early age and are advised to undergo prophylactic total gastrectomy (PTG). Our aim was to improve the endoscopic detection of HDGC by using an enhanced endoscopic protocol...
December 2016: Endoscopy International Open
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