keyword
MENU ▼
Read by QxMD icon Read
search

hereditary diffuse gastric cancer

keyword
https://www.readbyqxmd.com/read/29929997/hereditary-lobular-breast-cancer-with-an-emphasis-on-e-cadherin-genetic-defect
#1
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...
June 21, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29882764/molecular-and-pathological-features-of-gastric-cancer-in-lynch-syndrome-and-familial-adenomatous-polyposis
#2
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
https://www.readbyqxmd.com/read/29869323/hereditary-diffuse-gastric-cancer-how-to-look-for-and-how-to-manage-it
#3
REVIEW
Karol Polom, Daniele Marrelli, Alessia D'Ignazio, Franco Roviello
With a current molecular revolution, hereditary gastric cancer represents a small group of patients that require a special multidisciplinary treatment. Surgeons being a member of the multidisciplinary teams are an important part of the diagnosis, treatment and follow-up of these patients. The prophylactic nature of the gastrectomy with all different problems associated with this procedure need to be widely discussed with patients. We present a review of how to look for and how to manage a hereditary diffuse-type gastric cancer...
June 4, 2018: Updates in Surgery
https://www.readbyqxmd.com/read/29769627/clinical-and-functional-characterization-of-the-cdh1-germline-variant-c-1679c-g-in-three-unrelated-families-with-hereditary-diffuse-gastric-cancer
#4
Laura Pena-Couso, José Perea, Soraia Melo, Fátima Mercadillo, Joana Figueiredo, João Miguel Sanches, Antonio Sánchez-Ruiz, Luis Robles, Raquel Seruca, Miguel Urioste
Germline changes in the CDH1 tumor suppressor gene predispose to diffuse gastric cancer and lobular breast cancer. In carriers of deleterious germline CDH1 variants, prophylactic gastrectomy is recommended. In case of germline missense variants, it is mandatory to assess the functional impact on E-cadherin, the protein encoded by CDH1, and to predict their clinical significance. Herein, we have identified a recurrent germline missense variant, c.1679C>G, segregating with gastric cancer in three unrelated Spanish families...
May 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706558/germline-pathogenic-variants-in-palb2-and-other-cancer-predisposing-genes-in-families-with-hereditary-diffuse-gastric-cancer-without-cdh1-mutation-a-whole-exome-sequencing-study
#5
Eleanor Fewings, Alexey Larionov, James Redman, Mae A Goldgraben, James Scarth, Susan Richardson, Carole Brewer, Rosemarie Davidson, Ian Ellis, D Gareth Evans, Dorothy Halliday, Louise Izatt, Peter Marks, Vivienne McConnell, Louis Verbist, Rebecca Mayes, Graeme R Clark, James Hadfield, Suet-Feung Chin, Manuel R Teixeira, Olivier T Giger, Richard Hardwick, Massimiliano di Pietro, Maria O'Donovan, Paul Pharoah, Carlos Caldas, Rebecca C Fitzgerald, Marc Tischkowitz
BACKGROUND: Germline pathogenic variants in the E-cadherin gene (CDH1) are strongly associated with the development of hereditary diffuse gastric cancer. There is a paucity of data to guide risk assessment and management of families with hereditary diffuse gastric cancer that do not carry a CDH1 pathogenic variant, making it difficult to make informed decisions about surveillance and risk-reducing surgery. We aimed to identify new candidate genes associated with predisposition to hereditary diffuse gastric cancer in affected families without pathogenic CDH1 variants...
July 2018: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29589180/germline-cdh1-mutations-are-a-significant-contributor-to-the-high-frequency-of-early-onset-diffuse-gastric-cancer-cases-in-new-zealand-m%C3%A4-ori
#6
Christopher Hakkaart, Lis Ellison-Loschmann, Robert Day, Andrew Sporle, Jonathan Koea, Pauline Harawira, Soo Cheng, Michelle Gray, Tracey Whaanga, Neil Pearce, Parry Guilford
New Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primarily characterised by an extreme lifetime risk of developing diffuse gastric cancer. Pathogenic CDH1 mutations are well described in Māori families in New Zealand. However, the contribution of these mutations to the high incidence of gastric cancer is unknown...
March 27, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29545726/germline-mutations-in-hereditary-diffuse-gastric-cancer
#7
Hao Zhang, Mengmeng Feng, Yi Feng, Zhaode Bu, Ziyu Li, Shuqin Jia, Jiafu Ji
Gastric cancer is one of the leading causes of cancer-related deaths worldwide. Among which, about 1%-3% of gastric cancer patients were characterized by inherited gastric cancer predisposition syndromes, knowing as hereditary diffuse gastric cancer (HDGC). Studies reported that CDH1 germline mutations are the main cause of HDGC. With the help of rapid development of genetic testing technologies and data analysis tools, more and more researchers focus on seeking candidate susceptibility genes for hereditary cancer syndromes...
February 2018: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/29492914/-updates-and-interpretation-on-nccn-clinical-practice-guidelines-for-gastric-cancer-2017-version-5
#8
Haibo Qiu, Zhiwei Zhou
The National Comprehensive Cancer Network (NCCN) issued the clinical practice guidelines for gastric cancer 2017 edition version 5, which has been fully updated for the treatment of gastric cancer, including systematic treatment, surgery and radiotherapy. This article review and summarize the updated NCCN clinical practice guidelines for gastric cancer in 2017 and try to interpret it. (1)Biomarkers: mismatch repair defect (dMMR) or high microsatellite instability (MSI-H), programmed death ligand 1 (PD-L1) and tumor Epstein Barr virus (EBV) status should be considered for patients with gastric cancer...
February 25, 2018: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/29468433/merging-perspectives-genotype-directed-molecular-therapy-for-hereditary-diffuse-gastric-cancer-hdgc-and-e-cadherin-egfr-crosstalk
#9
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 sporadic gastric cancer. To date, there have been no treatment options described tailored to this molecular subtype of gastric cancer...
February 22, 2018: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/29454568/phenotypic-heterogeneity-of-hereditary-diffuse-gastric-cancer-report-of-a-family-with-early-onset-disease
#10
Irene Gullo, Vitor Devezas, Manuela Baptista, Luzia Garrido, Sérgio Castedo, Rui Morais, Xiaogang Wen, Elisabete Rios, Jorge Pinheiro, Inês Pinto-Ribeiro, Rui M Ferreira, John Preto, João Santos-Antunes, Margarida Marques, Miquel Campos, Filipe Almeida, Maria do Céu Espinheira, Jorge Amil Dias, Céu Figueiredo, Carla Oliveira, Eunice Trindade, Fátima Carneiro
BACKGROUND AND AIMS: The time course for the development of clinically significant hereditary diffuse gastric cancer (HDGC) is unpredictable. Little is known about the progression from preclinical, indolent lesions to widely invasive, aggressive phenotypes. Gastroendoscopy often fails to detect early lesions, and risk-reducing/prophylactic total gastrectomy (PTG) is the only curative approach. We present an HDGC family with early-onset disease in which clinical and histologic findings provided insight into the understanding of different HDGC phenotypes...
February 15, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29406927/endoscopic-screening-for-hereditary-diffuse-gastric-cancer-one-size-does-not-fit-all
#11
EDITORIAL
Everson Luiz de Almeida Artifon, Fábio Ramalho Tavares Marinho
No abstract text is available yet for this article.
February 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29397239/hereditary-gastrointestinal-carcinomas-and-their-precursors-an-algorithm-for-genetic-testing
#12
REVIEW
Clothaire P E Spoto, Irene Gullo, Fatima Carneiro, Elizabeth A Montgomery, Lodewijk A A Brosens
Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome)...
May 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29376063/hereditary-diffuse-gastric-cancer-one-family-s-story
#13
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 CDH1 positive individuals older than age 20 years. We describe the case of a male with recurrent gastric cancer who was diagnosed with HDGC secondary to the CDH1 mutation, and we also describe the patient's pedigree and outcomes of recommended genetic testing...
January 16, 2018: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29348693/variants-in-members-of-the-cadherin-catenin-complex-cdh1-and-ctnnd1-cause-blepharocheilodontic-syndrome
#14
Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F Baas, Corstiaan C Breugem, Karen Duran, Maarten Massink, Patrick W B Derksen, Wilfred F J van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L I van Gassen, Annelies de Klein, Marie-José H van den Boogaard, Gijs van Haaften
Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex...
February 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29341149/quality-of-life-implications-of-risk-reducing-cancer-surgery
#15
REVIEW
A M Altman, J Y C Hui, T M Tuttle
BACKGROUND: Modern advances in genetic sequencing techniques have allowed for increased availability of genetic testing for hereditary cancer syndromes. Consequently, more people are being identified as mutation carriers and becoming aware of their increased risk of malignancy. Testing is commonplace for many inheritable cancer syndromes, and with that comes the knowledge of being a gene carrier for some patients. With increased risk of malignancy, many guidelines recommend that gene carriers partake in risk reduction strategies, including risk-reducing surgery for some syndromes...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29341148/outcomes-after-prophylactic-gastrectomy-for-hereditary-diffuse-gastric-cancer
#16
R T van der Kaaij, J P van Kessel, J M van Dieren, P Snaebjornsson, O Balagué, F van Coevorden, L E van der Kolk, K Sikorska, A Cats, J W van Sandick
BACKGROUND: Patients with hereditary diffuse gastric cancer and a CDH1 mutation have a 60-80 per cent lifetime risk of developing diffuse gastric cancer. Total prophylactic gastrectomy eliminates this risk, but is associated with considerable morbidity. The effectiveness (removal of all gastric mucosa) and outcomes of this procedure were evaluated retrospectively. METHODS: All consecutive individuals undergoing a prophylactic gastrectomy for a CDH1 mutation or gastric signet ring cell foci at the authors' institute between 2005 and 2017 were included...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29231860/predicting-the-functional-impact-of-cdh1-missense-mutations-in-hereditary-diffuse-gastric-cancer
#17
REVIEW
Soraia Melo, Joana Figueiredo, Maria Sofia Fernandes, Margarida Gonçalves, Eurico Morais-de-Sá, João Miguel Sanches, Raquel Seruca
The role of E-cadherin in Hereditary Diffuse Gastric Cancer (HDGC) is unequivocal. Germline alterations in its encoding gene ( CDH1 ) are causative of HDGC and occur in about 40% of patients. Importantly, while in most cases CDH1 alterations result in the complete loss of E-cadherin associated with a well-established clinical impact, in about 20% of cases the mutations are of the missense type. The latter are of particular concern in terms of genetic counselling and clinical management, as the effect of the sequence variants in E-cadherin function is not predictable...
December 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29178089/-current-status-of-hereditary-gastrointestinal-neoplasms
#18
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
#19
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
#20
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...
April 3, 2018: Cancer Biology & Therapy
keyword
keyword
76831
1
2
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"