keyword
https://read.qxmd.com/read/38414029/e-cadherin-variants-associated-with-oral-facial-clefts-trigger-aberrant-cell-motility-in-a-reg1a-dependent-manner
#1
JOURNAL ARTICLE
Joana Pereira, Soraia Melo, Rui M Ferreira, Patrícia Carneiro, Vítor Yang, André F Maia, João Carvalho, Ceu Figueiredo, José Carlos Machado, Eurico Morais-de-Sá, Raquel Seruca, Joana Figueiredo
BACKGROUND: Germline mutations of E-cadherin contribute to hereditary diffuse gastric cancer (HDGC) and congenital malformations, such as oral facial clefts (OFC). However, the molecular mechanisms through which E-cadherin loss-of-function triggers distinct clinical outcomes remain unknown. We postulate that E-cadherin-mediated disorders result from abnormal interactions with the extracellular matrix and consequent aberrant intracellular signalling, affecting the coordination of cell migration...
February 27, 2024: Cell Communication and Signaling: CCS
https://read.qxmd.com/read/38411616/e-cadherin-loss-drives-diffuse-type-gastric-tumorigenesis-via-ezh2-mediated-reprogramming
#2
JOURNAL ARTICLE
Gengyi Zou, Yuanjian Huang, Shengzhe Zhang, Kyung-Pil Ko, Bongjun Kim, Jie Zhang, Vishwa Venkatesan, Melissa P Pizzi, Yibo Fan, Sohee Jun, Na Niu, Huamin Wang, Shumei Song, Jaffer A Ajani, Jae-Il Park
Diffuse-type gastric adenocarcinoma (DGAC) is a deadly cancer often diagnosed late and resistant to treatment. While hereditary DGAC is linked to CDH1 mutations, the role of CDH1/E-cadherin inactivation in sporadic DGAC tumorigenesis remains elusive. We discovered CDH1 inactivation in a subset of DGAC patient tumors. Analyzing single-cell transcriptomes in malignant ascites, we identified two DGAC subtypes: DGAC1 (CDH1 loss) and DGAC2 (lacking immune response). DGAC1 displayed distinct molecular signatures, activated DGAC-related pathways, and an abundance of exhausted T cells in ascites...
April 1, 2024: Journal of Experimental Medicine
https://read.qxmd.com/read/38394940/cdh1-gene-mutation-a-challenging-surgical-topic-case-report-and-literature-review
#3
Hani Maalouf, Toufic Saber, Souad Ghattas, Zarouhie Meguerian-Bedoyan, Ziad El Rassi
INTRODUCTION: Gastric cancer is one of the top 5 cancers worldwide. Most gastric cancers are classified as sporadic with the exception of around 3 % that are associated with specific syndromes or genes. Hereditary diffuse gastric cancer is a very rare type of gastric cancer, associated with loss of function of a tumor suppressor gene CDH1 which has a high penetrance that can reach 90 % over a lifetime. CASE PRESENTATION: Here we present the case of a 31 years old male patient carrying the CDH1 gene who presented for prophylactic total gastrectomy and D1 lymphadenectomy followed by a roux en y esophago-jejunostomy for digestive tract reconstruction...
February 21, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38339225/a-systematic-review-on-clinical-and-health-related-quality-of-life-outcomes-following-total-gastrectomy-in-patients-with-hereditary-diffuse-gastric-cancer
#4
REVIEW
Hui Jun Lim, Massimiliano di Pietro, J Robert O'Neill
Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominant syndrome associated with early onset diffuse gastric cancer. Definitive treatment is prophylactic total gastrectomy (PTG) associated with significant morbidity. Studies published from January 2000 to December 2022 reporting clinical, histopathological or health-related quality of life outcomes in HDGC patients undergoing PTG were identified. The study quality was assessed by the "Newcastle-Ottawa scale". Of the 257 articles screened, 21 were selected...
January 23, 2024: Cancers
https://read.qxmd.com/read/38188186/pioneering-use-of-genetic-analysis-for-cdh1-to-identify-candidates-for-prophylactic-total-gastrectomy-to-prevent-hereditary-diffuse-gastric-cancer
#5
JOURNAL ARTICLE
Farzad Mokhtari-Esbuie, Bryan Szeglin, Mohsen Rouhani Ravari, Mark Duncan, John W Harmon
Worldwide, gastric cancer results in significant morbidity and mortality. Ten per cent of patients with gastric cancer have a strong family history of the disease. CDH1 (E-cadherin) has been identified as a key gene whose mutation leads to hereditary diffuse gastric cancer. We overviewed 33 articles with prophylactic total gastrectomy and assessed the outcomes and benefits. Families with mutations in CDH1 may benefit from early prophylactic total gastrectomy. Dr Mark Duncan has applied his experience as a high-volume gastric cancer surgeon to treat not only individual patients, but several generations of patients within a family...
September 2023: eGastroenterology
https://read.qxmd.com/read/38145373/robotic-vagus-sparing-total-gastrectomy-for-cdh1-gene-mutation-treatment
#6
JOURNAL ARTICLE
Daniel L Chan, Michael L Talbot
Hereditary diffuse gastric cancer (HDGC) caused by the CDH1 gene mutation is an inherited cancer syndrome that increases the risk of diffuse gastric cancer and is nearly impossible to detect by screening gastroscopy. The recommended preventative treatment is a total gastrectomy. Robotic surgery facilitates the use of minimally invasive surgical (MIS) techniques for anastomoses and posterior vagus preservation to potentially reduce adverse functional outcomes. An asymptomatic 24 year old male with the CDH1 gene mutation proven by genetic testing and a family history of a brother having a total gastrectomy for HDGC was treated with this technique...
December 8, 2023: Journal of Visualized Experiments: JoVE
https://read.qxmd.com/read/37938268/the-ecm-and-tissue-architecture-are-major-determinants-of-early-invasion-mediated-by-e-cadherin-dysfunction
#7
JOURNAL ARTICLE
Soraia Melo, Pilar Guerrero, Maurício Moreira Soares, José Rafael Bordin, Fátima Carneiro, Patrícia Carneiro, Maria Beatriz Dias, João Carvalho, Joana Figueiredo, Raquel Seruca, Rui D M Travasso
Germline mutations of E-cadherin cause Hereditary Diffuse Gastric Cancer (HDGC), a highly invasive cancer syndrome characterised by the occurrence of diffuse-type gastric carcinoma and lobular breast cancer. In this disease, E-cadherin-defective cells are detected invading the adjacent stroma since very early stages. Although E-cadherin loss is well established as a triggering event, other determinants of the invasive process persist largely unknown. Herein, we develop an experimental strategy that comprises in vitro extrusion assays using E-cadherin mutants associated to HDGC, as well as mathematical models epitomising epithelial dynamics and its interaction with the extracellular matrix (ECM)...
November 8, 2023: Communications Biology
https://read.qxmd.com/read/37903316/costs-of-cancer-prevention-physical-and-psychosocial-sequelae-of-risk-reducing-total-gastrectomy
#8
JOURNAL ARTICLE
Amber F Gallanis, Lauren A Gamble, Sarah G Samaranayake, Rachael Lopez, Amanda Rhodes, Suraj Rajasimhan, Grace-Ann Fasaye, Olvan Juma, Maureen Connolly, Stacy Joyce, Ann Berger, Theo Heller, Andrew M Blakely, Jonathan M Hernandez, Jeremy L Davis
PURPOSE: Risk-reducing surgery for cancer prevention in solid tumors is a pressing clinical topic because of the increasing availability of germline genetic testing. We examined the short- and long-term outcomes of risk-reducing total gastrectomy (RRTG) and its lesser-known impacts on health-related quality of life (QOL) in individuals with hereditary diffuse gastric cancer syndrome. METHODS: Individuals who underwent RRTG as part of a single-institution natural history study of hereditary gastric cancers were examined...
October 30, 2023: Journal of Clinical Oncology
https://read.qxmd.com/read/37824775/pathological-significance-of-cdh1-e-cadherin-germline-sequence-variants-in-breast-cancer-patients
#9
JOURNAL ARTICLE
S Tabassum, F Munir, A A Al Awadh, Z Anwar
BACKGROUND: Germline alterations of the CDH1 (E-cadherin) tumor suppressor gene have been reported in several epithelial malignancies like hereditary diffuse gastric cancer and lobular breast cancer. E-cadherin plays a central role in proliferation, maintenance of cell-to-cell adhesion, polarity, and epithelial-mesenchymal transition of tissue cells. It is necessary to analyze the impact of the CDH1 germline sequence variants on protein and predict its clinical significance in breast cancer (BC) progression...
October 11, 2023: Experimental Oncology
https://read.qxmd.com/read/37767311/gastric-cancer-a-practical-review-on-management-of-individuals-with-hereditary-or-familial-risk-for-gastric-cancer
#10
REVIEW
Marisa Linhares, Cláudia Marques Pinto, Diogo Libânio, Manuel R Teixeira, Mário Dinis-Ribeiro, Catarina Brandão
Gastric adenocarcinoma is one of the most frequent and deadly cancers worldwide. However, its incidence is variable, being higher in eastern countries where screening the general population is recommended. On the other hand, in low to intermediate-risk countries, screening the general population may not be cost-effective, and therefore, it is necessary to be aware of high-risk populations that may benefit from adequate screening and surveillance. It is not always easy to identify these individuals, leading to a late diagnosis of gastric adenocarcinoma...
August 2023: GE Portuguese Journal of Gastroenterology
https://read.qxmd.com/read/37761816/case-series-of-11-cdh1-families-47-carriers-including-incidental-findings-signet-ring-cell-colon-cancer-and-review-of-the-literature
#11
JOURNAL ARTICLE
Mathis Lepage, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Myriam Kossai, Julien Scanzi, Zangbéwendé Guy Ouedraogo, Mathilde Gay-Bellile, Yannick Bidet, Mathias Cavaillé
Germline pathogenic variants in E-cadherin ( CDH1 ) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of DGC in CDH1 carriers has been recently reassessed (from 40-83% by age 80 to 25-42%) and varies according to the presence and number of gastric cancers in the family. As there is no accurate estimate of the risk of gastric cancer in families without DGC, the International Gastric Cancer Linkage Consortium recommendation is not straightforward: prophylactic gastrectomy or endoscopic surveillance should be proposed for these families...
August 25, 2023: Genes
https://read.qxmd.com/read/37725907/clinical-implication-of-cdh1-mutations-in-genetic-testing-for-diffuse-gastric-cancer-patients
#12
Giovanni Corso, Cristina Maria Trovato, Salvatore Petitto, Antonia Girardi, Alessandra Margherita De Scalzi, Beatrice Bianchi, Francesca Magnoni, Antonio Cioffi, Viviana Galimberti, Paolo Veronesi, Giovanni Mazzarol, Patrick Maisonneuve
INTRODUCTION: The objective of this study was to re-classify published germline CDH1 variants identified in gastric cancer (GC) in accordance with the latest ClinVar definition and to correlate their pathogenicity with the established international clinical criteria for genetic testing. METHODS: The relevant literature dating from 1998 to 2019 was systematically searched for data on CDH1 germline mutations in accord with PRISMA guidelines. The collected variants were classified according to the latest ClinVar definition into the following classes: benign (B), likely benign (LB), pathogenic (P), likely pathogenic (LP), and variant of unknown significance (VUS)...
September 19, 2023: Oncology
https://read.qxmd.com/read/37707375/early-immune-changes-support-signet-ring-cell-dormancy-in-cdh1-driven-hereditary-diffuse-gastric-carcinogenesis
#13
JOURNAL ARTICLE
Benjamin L Green, Lauren A Gamble, Laurence P Diggs, Darryl Nousome, Jesse C Patterson, Brian A Joughin, Billel Gasmi, Stephanie C Lux, Sarah G Samaranayake, Markku Miettinen, Martha Quezado, Jonathan M Hernandez, Michael B Yaffe, Jeremy L Davis
Stage IA gastric adenocarcinoma, characterized by foci of intramucosal signet ring cells (SRCs), is found in nearly all asymptomatic patients with germline pathogenic CDH1 variants and hereditary diffuse gastric cancer syndrome (HDGC). The molecular steps involved in initiating malignant transformation and promoting SRC dormancy in HDGC are unknown. Here, whole-exome bulk RNA sequencing (RNAseq) of SRCs and adjacent non-SRC epithelium (NEP) was performed on laser-capture microdissected (LCM) regions of interest found in risk-reducing total gastrectomy specimens from HDGC patients (Clinicaltrials...
September 14, 2023: Molecular Cancer Research: MCR
https://read.qxmd.com/read/37686589/frequency-of-cdh1-ctnna1-and-ctnnd1-germline-variants-in-families-with-diffuse-and-mixed-gastric-cancer
#14
JOURNAL ARTICLE
Joana Guerra, Carla Pinto, Pedro Pinto, Manuela Pinheiro, Catarina Santos, Ana Peixoto, Carla Escudeiro, Ana Barbosa, Miguel Porto, Inês Francisco, Paula Lopes, Ana Raquel Isidoro, Ana Luísa Cunha, Cristina Albuquerque, Isabel Claro, Carla Oliveira, João Silva, Manuel R Teixeira
The most well-characterized hereditary form of gastric cancer is hereditary diffuse gastric cancer (HDGC), an autosomal dominant syndrome characterized by an increased risk of diffuse gastric and lobular breast cancer. HDGC is predominantly caused by germline pathogenic variants in the CDH1 gene, and more rarely in the CTNNA1 gene. Furthermore, the International Gastric Cancer Linkage Consortium (IGCLC) guidelines do not clarify whether or not mixed gastric cancer (with a diffuse component) should be considered in the HDGC genetic testing criteria...
August 29, 2023: Cancers
https://read.qxmd.com/read/37676082/endoscopic-surveillance-for-familial-intestinal-gastric-cancer-in-low-incidence-areas-an-effective-strategy
#15
JOURNAL ARTICLE
Joan Llach, Inmaculada Salces, Ana Guerra, Beatriz Peñas, Daniel Rodriguez-Alcalde, Pilar Díez Redondo, Joaquin Cubiella, Óscar Murcia, Maite Escalante, Jordi Gratacós-Ginès, Anna Pocurull, Maria Daca-Alvarez, Irina Luzko, Ariadna Sánchez, Cristina Herrera-Pariente, Teresa Ocaña, Sabela Carballal, Ignasi Elizalde, Sergi Castellví-Bel, Glòria Fernández-Esparrach, Antoni Castells, Francesc Balaguer, Leticia Moreira
While clinical practice guidelines for hereditary diffuse gastric cancer are well established, there is no consensus on the approach for familial intestinal gastric cancer (FIGC). In low-incidence gastric cancer (GC) areas such as the United States or most European countries, there are no evidence-based recommendations on endoscopic assessment in FIGC families. We aim to describe the yield of GC surveillance in these families, and to identify epidemiological risk factors for the development of GC and its precursor lesions...
September 7, 2023: International Journal of Cancer. Journal International du Cancer
https://read.qxmd.com/read/37644154/laparoscopic-prophylactic-total-gastrectomy-with-limited-lymphadenectomy-for-cdh1-gene-carriers
#16
JOURNAL ARTICLE
Mary K Bryant, Rachel Sillcox, William M Grady, Brant K Oelschlager
BACKGROUND: CDH1 gene mutations are the leading etiology of hereditary diffuse gastric cancer with cumulative lifetime risk ranging up to 83%. Prophylactic total gastrectomy (PTG) is, therefore, recommended for CDH1 carriers. A laparoscopic approach may reduce operative risk versus an open operation, thus leading more patients with CDH1 mutations to pursue PTG prior to cancer development. However, more experience and oncologic outcome data are needed for a laparoscopic approach and indicated lymphadenectomy...
August 29, 2023: Surgical Endoscopy
https://read.qxmd.com/read/37639007/germline-cdh1-variants-in-hereditary-diffuse-gastric-cancer-syndrome-with-focus-on-younger-women
#17
REVIEW
Giovanni Corso, Giovanni Comelli, Paolo Veronesi, Beatrice Bianchi, Salvatore Petitto, Andrea Polizzi, Antonia Girardi, Antonio Cioffi, Carlo La Vecchia, Vincenzo Bagnardi, Francesca Magnoni
PURPOSE: The objective of this study was to determine the male and female frequency of diffuse gastric cancer (DGC), the age at diagnosis, and the country of origin in a selected population with germline CDH1 variants from families with the hereditary diffuse gastric cancer (HDGC) syndrome. METHODS: Relevant literature dating from 1998 to 2021 was systematically searched for data on CDH1 gene. The Wilcoxon rank sum test and the Chi-square test were used to estimate if the difference observed between patients with gastric cancer (GC) and unaffected individuals was significant...
August 28, 2023: Journal of Cancer Research and Clinical Oncology
https://read.qxmd.com/read/37588744/non-targeted-biopsies-in-hereditary-diffuse-gastric-cancer-necessary-but-not-enough
#18
EDITORIAL
Kole H Buckley, Rashmi Tondon, Parry Guilford, Bryson W Katona
No abstract text is available yet for this article.
July 31, 2023: Translational Cancer Research
https://read.qxmd.com/read/37540482/combining-clinical-and-molecular-characterization-of-cdh1-a-multidisciplinary-approach-to-reclassification-of-a-splicing-variant
#19
JOURNAL ARTICLE
Corrine Fillman, Arravinth Anantharajah, Briana Marmelstein, Monica Dillon, Carolyn Horton, Candace Peterson, Joseph Lopez, Rashmi Tondon, Terra Brannan, Bryson W Katona
Pathogenic germline variants (PGVs) in the CDH1 gene are associated with diffuse gastric and lobular breast cancer syndrome (DGLBC) and can increase the lifetime risk for both diffuse gastric cancer and lobular breast cancer. Given the risk for diffuse gastric cancer among individuals with CDH1 PGVs is up to 30-40%, prophylactic total gastrectomy is often recommended to affected individuals. Therefore, accurate interpretation of CDH1 variants is of the utmost importance for proper clinical decision-making. Herein we present a 45-year-old female, with lobular breast cancer and a father with gastric cancer of unknown pathology at age 48, who was identified to have an intronic variant of uncertain significance in the CDH1 gene, specifically c...
August 4, 2023: Familial Cancer
https://read.qxmd.com/read/37476473/two-pediatric-cases-within-a-familial-cluster-and-hereditary-diffuse-gastric-carcinoma-a-tale-of-2-sisters
#20
Lacey Falgout, Lawrence L Gensler
Hereditary diffuse gastric cancer is a familial form of poorly differentiated signet ring cell carcinoma (SRCC) caused by a mutation in the CDH1/E-cadherin gene-mediating cell adhesion. CDH1 mutations are inherited in an autosomal dominant fashion and exhibit a high level of penetrance. SRCC diagnosis is exceedingly rare in the pediatric population. We report a case of SRCC in 2 sisters (10 and 15 years) and their father (41 years).
July 2023: ACG Case Reports Journal
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