Read by QxMD icon Read

hereditary diffuse gastric cancer

Winifred Lo, Bin Zhu, Arvind Sabesan, Ho-Hsiang Wu, Astin Powers, Rebecca A Sorber, Sarangan Ravichandran, Ina Chen, Lucas A McDuffie, Humair S Quadri, Joal D Beane, Kathleen Calzone, Markku M Miettinen, Stephen M Hewitt, Christopher Koh, Theo Heller, Sholom Wacholder, Udo Rudloff
INTRODUCTION: Hereditary diffuse gastric cancer (HDGC) is a cancer syndrome associated with variants in E-cadherin (CDH1), diffuse gastric cancer and lobular breast cancer. There is considerable heterogeneity in its clinical manifestations. This study aimed to determine associations between CDH1 germline variant status and clinical phenotypes of HDGC. METHODS: One hundred and fifty-two HDGC families, including six previously unreported families, were identified...
February 11, 2019: Journal of Medical Genetics
Joana Figueiredo, Soraia Melo, Patrícia Carneiro, Ana Margarida Moreira, Maria Sofia Fernandes, Ana Sofia Ribeiro, Parry Guilford, Joana Paredes, Raquel Seruca
CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour suppressor gene, and it is well established that CDH1 genetic alterations cause diffuse gastric cancer and lobular breast cancer-the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating that CDH1 mutations can be associated with lobular breast cancer and/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer...
January 19, 2019: Journal of Medical Genetics
Justin Drake, Karen Chelcun Schreiber, Rachael Lopez, Grace-Ann Fasaye, Maureen Connolly, Martha Quezado, Theo Heller, Jonathan M Hernandez, Jeremy L Davis
No abstract text is available yet for this article.
January 7, 2019: Journal of Surgical Oncology
Wenyi Luo, Faysal Fedda, Patrick Lynch, Dongfeng Tan
Gastric cancer, a group of common malignancies, results in the most cancer mortality worldwide after only lung and colorectal cancer. Although familial gastric cancers have long been recognized, it was not until recently that they were discovered to be associated with mutations of specific genes. Mutations of CDH1 , the gene encoding E-cadherin, are the most common germline mutations detected in gastric cancer and underlie hereditary diffuse gastric cancer (HDGC) syndrome. All reported HDGCs are the pure diffuse type by Lauren classification and are associated with dismal prognosis once the tumor invades the submucosa...
2018: Frontiers in Pharmacology
Soroush Nasri, Bostjan Humara, Ahmad Anjomshoaa, Nourodin Moradi, Naghmeh Gholipour, Sakineh Mashjoor, Peng Zhang
Diffuse gastric cancer (DGC) is one of the two primary types of stomach cancer. Carriers of germline mutations in the gene encoding E-cadherin are predisposed to DGC. The primary aim of the present study was to determine if genomic instability is an early event in DGC and how it may lead to disease progression. Chromosomal aberrations in early intramucosal hereditary diffuse gastric cancer (eHDGC) were assessed using array comparative genomic hybridization (array CGH). Notably, no aneuploidy or other large-scale chromosomal rearrangements were detected...
December 13, 2018: Pathology Oncology Research: POR
Taro Funakoshi, Shin'ichi Miyamoto, Nobuyuki Kakiuchi, Mitsuhiro Nikaido, Takeshi Setoyama, Akira Yokoyama, Takahiro Horimatsu, Atsushi Yamada, Masako Torishima, Shinji Kosugi, Hidetaka Yamada, Haruhiko Sugimura, Hironori Haga, Yoshiharu Sakai, Seishi Ogawa, Hiroshi Seno, Manabu Muto, Tsutomu Chiba
Germline mutations in CDH1, encoding E-cadherin, are known to be the causative mechanism of hereditary diffuse gastric cancer (HDGC). We encountered two cases of gastric cancer in a Japanese family with HDGC. A 28-year-old man (Case 1) died of advanced gastric cancer. His younger sister aged 27 (Case 2) was diagnosed with intramucosal signet ring cell carcinoma (SRCC). Both had identical germline CDH1 mutations, but Case 1 was positive for Helicobacter pylori infection, whereas Case 2 was negative. Case 2 underwent total gastrectomy...
December 12, 2018: Gastric Cancer
Manish Sahni, Ashish Goel, Pankaj Pande, Kapil Kumar
Multiple gastrointestinal cancers in a single patient is a rare entity. In our study, we are showing the clinical presentation and management of these patients. A fifty-nine-year-old asthenic male (already treated case of metachronous colorectal cancer in 2008 and 2011) presented with complaints of generalized weakness and fatigue. Strong family history was present with two of his first-degree relatives having diagnosed with gastrointestinal cancer at the age < 50 years with one of them having stomach carcinoma and another with GEJ tumors...
December 2018: Indian Journal of Surgical Oncology
Patrick R Benusiglio, Chrystelle Colas, Erell Guillerm, Axelle Canard, Hélène Delhomelle, Mathilde Warcoin, Jérôme Bellanger, Mélanie Eyries, Mohamed Zizi, Jeanne Netter, Florent Soubrier, Yann Parc, Anne Mourregot, Aurélie Maran Gonzalez, Veronica Cusin, Jérôme A Denis, Isabelle Coupier, Magali Svrcek, Florence Coulet
In 2017, we implemented CTNNA1 germline analysis in probands suspected of having hereditary diffuse gastric cancer. Here, we report the results from a retrospective series of 41 cases, including the identification of a new family with a CTNNA1 mutation and the first prophylactic total gastrectomy in an asymptomatic carrier after a normal upper endoscopy. Diffuse gastric cancer foci with loss of catenin alpha-1 expression were seen in the resected tissue, suggesting that CTNNA1 and CDH1 germline mutations behave in a similar manner...
December 4, 2018: Gastric Cancer
Vicente Munitiz Ruiz, Pilar Jimeno, David Ruiz de Angulo, Ángeles Ortiz, Luisa F Martínez de Haro, Miguel Marín, Pedro Cascales, Gema Ruiz García, Eduardo Ortiz Ruiz, Pascual Parrilla
INTRODUCTION: hereditary diffuse gastric cancer (HDGC) is a recently reported hereditary cancer syndrome. Patients with suspected HDGC must be under surveillance via endoscopy and multiple biopsies. As an alternative, some studies suggest prophylactic gastrectomy (PG) for disease carriers. The goal of this article was to report our experience with a CDH1 mutation positive family who underwent PG. PATIENTS AND METHODS: the index case was a 34-year-old female diagnosed with diffuse gastric adenocarcinoma and massive carcinomatosis...
November 23, 2018: Revista Española de Enfermedades Digestivas
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fatima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman, Pardeep Kaurah, Chimene Kesserwan, Tyler Landrith, Shuwei Li, Arjen R Mensenkamp, Carla Oliveira, Carolina Pardo, Tina Pesaran, Matthew Richardson, Thomas P Slavin, Amanda B Spurdle, Mackenzie Trapp, Leora Witkowski, Charles S Yi, Liying Zhang, Sharon E Plon, Kasmintan A Schrader, Rachid Karam
The variant curation guidelines published in 2015 by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) provided the genetics community with a framework to assess variant pathogenicity; however, these rules are not gene specific. Germline pathogenic variants in the CDH1 gene cause hereditary diffuse gastric cancer and lobular breast cancer, a clinically challenging cancer predisposition syndrome that often requires a multidisciplinary team of experts to be properly managed...
November 2018: Human Mutation
Florian Obermair, Melanie Rammer, Jonathan Burghofer, Theodora Malli, Anna Schossig, Katharina Wimmer, Wolfgang Kranewitter, Beate Mayrbaeurl, Hans-Christoph Duba, Gerald Webersinke
Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (CLP) has been described in few HDGC families. Here we report on an extensive pedigree presenting with HDGC, CLP and a CDH1 splice site mutation (c.687 + 1G > A) and review the literature for families with CDH1 mutations, HDGC and CLP. Transcript analysis showed that the c...
October 10, 2018: Familial Cancer
Janet R Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies...
October 9, 2018: Familial Cancer
Maitham A Moslim, Brandie Heald, Chao Tu, Carol A Burke, R Matthew Walsh
BACKGROUND: Hereditary diffuse gastric cancer is associated with E-cadherin (CDH1) germline mutations. The implications of CDH1 mutations detected with multigene panels in those without family history of HDGC are uncertain. METHODS: A registry of patients who underwent genetic counseling for CDH1 mutation was queried for the period 2011-2017. RESULTS: Twenty-one patients with CDH1 mutation were identified. The most common indication for CDH1 genetic screening was family history of hereditary diffuse gastric cancer (known risk) in 10 patients (48%); 11 patients (52%), however, were diagnosed by multigene cancer panels (unknown risk)...
August 23, 2018: Surgery
Dimitrios Pantelis, Philipp Lingohr, Robert Hueneburg, Isabel Spier, Tim Vilz, Jan F Lau, Jacob Nattermann, Stefan Aretz, Christian P Strassburg, Jörg C Kalff
INTRODUCTION: Prophylactic total gastrectomy is the treatment of choice in patients with germline mutation in the CDH1 gene and therefore high risk for hereditary diffuse gastric cancer (HDGC). Minimally invasive techniques have been established in recent years for treatment of gastric cancer. METHODS: We report findings with 12 patients with proven CDH1 mutation who underwent multidisciplinary treatment between 2013 and 3/2018 in our centre for hereditary tumour diseases, followed by prophylactic total gastrectomy in our department...
August 1, 2018: Zentralblatt Für Chirurgie
Tanis D Godwin, S Thomas Kelly, Tom P Brew, Nicola M Bougen-Zhukov, Andrew B Single, Augustine Chen, Cassie E Stylianou, Lawrence D Harris, Sophie K Currie, Bryony J Telford, Henry G Beetham, Gary B Evans, Michael A Black, Parry J Guilford
BACKGROUND: The E-cadherin gene (CDH1) is frequently mutated in diffuse gastric cancer and lobular breast cancer, and germline mutations predispose to the cancer syndrome Hereditary Diffuse Gastric Cancer. We are taking a synthetic lethal approach to identify druggable vulnerabilities in CDH1-mutant cancers. METHODS: Density distributions of cell viability data from a genome-wide RNAi screen of isogenic MCF10A and MCF10A-CDH1-/- cells were used to identify protein classes affected by CDH1 mutation...
July 31, 2018: Gastric Cancer
João P Rocha, Irene Gullo, Xiaogang Wen, Vítor Devezas, Manuela Baptista, Carla Oliveira, Fátima Carneiro
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant syndrome characterised by multigenerational diffuse gastric cancer, and is mainly caused by germline alterations in the CDH1 gene. Currently, endoscopy has limited diagnostic accuracy, and total gastrectomy (TG) is the treatment of choice for asymptomatic CDH1 carriers. In this study, we aimed to obtain a better understanding of HDGC syndrome by exploring the histopathological findings of TG specimens from asymptomatic HDGC patients. A comprehensive literature review was carried out, searching for TGs performed in asymptomatic HDGC patients...
December 2018: Histopathology
Olsi Gjyshi, Pankaj Vashi, Laura Seewald, Mitra Kohan, Elham Abboud, Eric Fowler, Revathi Suppiah, Hatem Halabi
BACKGROUND: Gastric cancer is the fifth most prevalent and the third most lethal cancer worldwide, causing approximately 720,000 deaths annually. Although most cases of gastric cancers are sporadic, one of its inherited forms, hereditary diffuse gastric cancer (HDGC), constitutes about 1-3% of cases. Interestingly, females in families with HDGC are also predisposed to developing lobular breast cancer (LBC). Recent analyses have identified loss-of-function germline mutations in cadherein-1 (CDH1) as a culprit in HDGC and LBC...
July 14, 2018: World Journal of Surgical Oncology
Carla de Castro Sant' Anna, Alberto Gomes Ferreira Junior, Paulo Soares, Fabricio Tuji, Eric Paschoal, Luiz Cláudio Chaves, Rommel Rodriguez Burbano
Cancer is a genetic disease characterized by uncontrolled cell growth and metastasis. Cancer can have a number of causes, such the activation of oncogenes, the inactivation of tumor-suppressing genes, mutagenesis provoked by external factors, and epigenetic modifications. The development of diagnostic tools and treatments using a molecular biological approach permits the use of sensitive, low-cost, noninvasive tests for cancer patients. Biomarkers can be used to provide rapid, personalized oncology, in particular the molecular diagnosis of chronic myeloid leukemia, and gastric, colon, and breast cancers...
July 13, 2018: Clinical and Experimental Medicine
Giovanni Corso, Joana Figueiredo, Carlo La Vecchia, Paolo Veronesi, Gabriella Pravettoni, Debora Macis, Rachid Karam, Roberto Lo Gullo, Elena Provenzano, Antonio Toesca, Ketti Mazzocco, Fátima Carneiro, Raquel Seruca, Soraia Melo, Fernando Schmitt, Franco Roviello, Alessandra Margherita De Scalzi, Mattia Intra, Irene Feroce, Elisa De Camilli, Maria Grazia Villardita, Chiara Trentin, Francesca De Lorenzi, Bernardo Bonanni, Viviana Galimberti
Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results' interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction...
July 2018: Journal of Medical Genetics
Mara Fornasarig, Raffaella Magris, Valli De Re, Ettore Bidoli, Vincenzo Canzonieri, Stefania Maiero, Alessandra Viel, Renato Cannizzaro
Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are autosomal dominant hereditary diseases caused by germline mutations leading to the development of colorectal cancer. Moreover, these mutations result in the development of a spectrum of different tumors, including gastric cancers (GCs). Since the clinical characteristics of GCs associated with LS and FAP are not well known, we investigated clinical and molecular features of GCs occurring in patients with LS and FAP attending our Institution. The Hereditary Tumor Registry was established in 1994 at the Department of Oncologic Gastroenterology, CRO Aviano National Cancer Institute, Italy...
June 6, 2018: International Journal of Molecular Sciences
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"