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hereditary diffuse gastric cancer

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https://www.readbyqxmd.com/read/27899187/genetic-predisposition-to-gastric-cancer
#1
REVIEW
Iva Petrovchich, James M Ford
Gastric cancer ranks as the third leading cause of cancer mortality worldwide and confers a 5-year survival of 20%. While most gastric cancers are sporadic, ~1%-3% can be attributed to inherited cancer predisposition syndromes. Germline E-cadherin/CDH1 mutations have been identified in families with an autosomal dominant inherited predisposition to diffuse gastric cancer. The cumulative risk of gastric cancer for CDH1 mutation carriers by age 80 years is reportedly 70% for men and 56% for women. Female mutation carriers also have an estimated 42% risk for developing lobular breast cancer by age 80 years...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27880784/cdh1-missense-variant-c-1679c-g-p-t560r-completely-disrupts-normal-splicing-through-creation-of-a-novel-5-splice-site
#2
Zarina Yelskaya, Ruben Bacares, Erin Salo-Mullen, Joshua Somar, Deborah A Lehrich, Grace-Ann Fasaye, Daniel G Coit, Laura H Tang, Zsofia K Stadler, Liying Zhang
Disease-causing germline mutations in CDH1 cause Hereditary Diffuse Gastric Cancer (HDGC). For patients who meet the HDGC screening criteria, the identification and classification of the sequence variants found in CDH1 are critical for risk management of patients. In this report, we describe a germline CDH1 c.1679C>G (p.T560R) variant identified in a 50 year old man who was diagnosed with gastric cancer with a strong family history of gastric cancer (one living brother was diagnosed with gastric cancer at 63 and another brother died of gastric cancer at 45)...
2016: PloS One
https://www.readbyqxmd.com/read/27837291/the-psychosocial-impact-of-undergoing-prophylactic-total-gastrectomy-ptg-to-manage-the-risk-of-hereditary-diffuse-gastric-cancer-hdgc
#3
Nina Hallowell, Julia Lawton, Shirlene Badger, Sue Richardson, Richard H Hardwick, Carlos Caldas, Rebecca C Fitzgerald
Individuals identified as at high risk of developing Hereditary Diffuse Gastric Cancer (HDGC) are advised to undergo prophylactic surgery - have their stomach removed - in their early twenties. Research with (older) cancer patients who undergo gastrectomy for curative reasons suggests that gastric resection has a number of physical and psychosocial sequelae. Because it is difficult to extrapolate the findings of studies of older cancer patients to younger healthy patients who are considering prophylactic total gastrectomy (PTG), the aim of this qualitative interview study was to determine the psychosocial implications of undergoing prophylactic surgery to manage genetic risk...
November 11, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27781410/expression-profile-of-e-cadherin-estrogen-receptors-and-p53-in-early-onset-gastric-cancers
#4
Fan Zhou, Yuanyuan Xu, Jiong Shi, Xing Lan, Xiaoping Zou, Lei Wang, Qin Huang
Early-onset gastric cancer (EOGC) is predominant in females, diffuse histology, and hereditary pattern. Germline mutation of CDH1 and p53 has been reported previously and female dominance was speculated to be associated with estrogen and its receptors. Expression of E-cadherin, estrogen receptor α (ERα), estrogen receptor β (ERβ), and p53 in EOGC remains unclear, which was the focus of this study, to assess clinical significance of their expression in EOGC. The expression of E-cadherin, ERα, ERβ, and p53 in tumors and normal tissues from surgically resected EOGCs was assessed by immunohistochemistry (n = 139) and Western blot (n = 7) methods, respectively...
October 25, 2016: Cancer Medicine
https://www.readbyqxmd.com/read/27778307/erratum-to-histopathological-molecular-and-genetic-profile-of-hereditary-diffuse-gastric-cancer-current-knowledge-and-challenges-for-the-future
#5
Rachel S van der Post, Irene Gullo, Carla Oliveira, Laura H Tang, Heike I Grabsch, Maria O'Donovan, Rebecca C Fitzgerald, Han van Krieken, Fátima Carneiro
No abstract text is available yet for this article.
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27759617/total-gastrectomy-for-hereditary-diffuse-gastric-cancer-at-a-single-center-postsurgical-outcomes-in-41-patients
#6
Vivian E Strong, Sepideh Gholami, Manish A Shah, Laura H Tang, Yelena Y Janjigian, Mark Schattner, Luke V Selby, Sam S Yoon, Erin Salo-Mullen, Zsofia K Stadler, David Kelsen, Murray F Brennan, Daniel G Coit
OBJECTIVE: The aim of this study was to describe postoperative outcomes of total gastrectomy at our institution for patients with hereditary diffuse gastric cancer (HDGC). BACKGROUND: HDGC, which is mainly caused by germline mutations in the E-cadherin gene (CDH1), renders a lifetime risk of gastric cancer of up to 70%, prompting a recommendation for prophylactic total gastrectomy. METHODS: A prospective gastric cancer database identified 41 patients with CDH1 mutation who underwent total gastrectomy during 2005 to 2015...
October 17, 2016: Annals of Surgery
https://www.readbyqxmd.com/read/27752808/prophylactic-total-gastrectomy-a-prospective-cohort-study-of-long-term-impact-on-quality-of-life
#7
Jennifer Muir, Melyssa Aronson, Mary-Jane Esplen, Aaron Pollett, Carol J Swallow
BACKGROUND: Hereditary diffuse gastric cancer (HDGC) syndrome is caused by germline mutations in the CDH1 gene and carries a lifetime gastric cancer risk of approximately 70 % in men and 56 % in women. Current consensus guidelines recommend that people of age ≥20 who harbor a CDH1 mutation undergo prophylactic total gastrectomy (PTG). However, the decision to proceed with a major visceral resection for prophylactic reasons may be difficult, especially since long-term outcomes are not well defined...
October 17, 2016: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/27582386/roles-for-e-cadherin-cell-surface-regulation-in-cancer
#8
Yuliya I Petrova, Leslayann Schecterson, Barry M Gumbiner
The loss of E-cadherin expression in association with the epithelial-mesenchymal transition (EMT) occurs frequently during tumor metastasis. However, metastases often retain E-cadherin expression, an EMT is not required for metastasis, and metastases can arise from clusters of tumor cells. We demonstrate that the regulation of the adhesive activity of E-cadherin present at the cell surface by an inside-out signaling mechanism is important in cancer. First, we find that the metastasis of an E-cadherin-expressing mammary cell line from the mammary gland to the lung depends on reduced E-cadherin adhesive function...
November 1, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27573781/histopathological-molecular-and-genetic-profile-of-hereditary-diffuse-gastric-cancer-current-knowledge-and-challenges-for-the-future
#9
Rachel S van der Post, Irene Gullo, Carla Oliveira, Laura H Tang, Heike I Grabsch, Maria O'Donovan, Rebecca C Fitzgerald, Han van Krieken, Fátima Carneiro
Familial clustering is seen in 10 % of gastric cancer cases and approximately 1-3 % of gastric cancer arises in the setting of hereditary diffuse gastric cancer (HDGC). In families with HDGC, gastric cancer presents at young age. HDGC is predominantly caused by germline mutations in CDH1 and in a minority by mutations in other genes, including CTNNA1. Early stage HDGC is characterized by a few, up to dozens of intramucosal foci of signet ring cell carcinoma and its precursor lesions. These include in situ signet ring cell carcinoma and pagetoid spread of signet ring cells...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27512640/a-novel-mutation-in-the-cdh1-gene-in-a-spanish-family-with-hereditary-diffuse-gastric-cancer
#10
María López, Cristina Cervera-Acedo, Paula Santibáñez, Raquel Salazar, Jesús-Javier Sola, Elena Domínguez-Garrido
Hereditary diffuse gastric cancer (HDGC) is an inherited form of diffuse type gastric cancer. Germline CDH1 mutations have been identified in approximately 15-50 % of affected kindred that meet the clinical criteria for HDGC. If any of the criteria is met the individual is referred to genetic counseling and CDH1 testing is offered. In this report we present the case of a Spanish family with HDGC harboring a novel CDH1 mutation. A 47 year-old female with a diagnostic of gastric adenocarcinoma and some of her relatives were tested...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27446532/micrornas-in-hereditary-diffuse-gastric-cancer
#11
Mayra-Cecilia Suárez-Arriaga, Rosa-María Ribas-Aparicio, Martha-Eugenia Ruiz-Tachiquín
In 2012, gastric cancer (GC) was the third cause of mortality due to cancer in men and women. In Central and South America, high mortality rates have been reported. A total of 95% of tumors developed in the stomach are of epithelial origin; thus, these are denominated adenocarcinomas of the stomach. Diverse classification systems have been established, among which two types of GC based on histological type and growth pattern have been described as follows: Intestinal (IGC) and diffuse (DGC). Approximately 1-3% of GC cases are associated with heredity...
August 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27441520/cate-s-story-hereditary-diffuse-gastric-cancer
#12
Megan Rogers
Gastric cancer is a major cause of cancer-related mortality worldwide and is thought to be responsible for about 10% of cancer-related deaths across the globe. A small proportion of all gastric cancers arise because of a known hereditary syndrome, the most common of which is hereditary diffuse gastric cancer (HDGC). This is an autosomal dominant genetic disease characterized by an increased risk of developing diffuse gastric cancer at a young age. The gene responsible for HDGC is CDH1, also known as E-cadherin, a germline mutation conferring an 80% risk of developing gastric cancer during the lifetime of the carrier...
August 1, 2016: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/27256430/an-investigation-of-the-factors-effecting-high-risk-individuals-decision-making-about-prophylactic-total-gastrectomy-and-surveillance-for-hereditary-diffuse-gastric-cancer-hdgc
#13
Nina Hallowell, Shirlene Badger, Sue Richardson, Carlos Caldas, Richard H Hardwick, Rebecca C Fitzgerald, Julia Lawton
Hereditary diffuse gastric cancer has an early onset and poor prognosis, therefore, individuals who carry a pathogenic (CDH1) mutation in the E-cadherin gene (CDH1) are offered endoscopic surveillance and advised to undergo prophylactic total gastrectomy (PTG) in their early to mid-twenties. Patients not ready or fit to undergo gastrectomy, or in whom the genetic testing result is unknown or ambiguous, are offered surveillance. Little is known about the factors that influence decisions to undergo or decline PTG, making it difficult to provide optimal support for those facing these decisions...
October 2016: Familial Cancer
https://www.readbyqxmd.com/read/27192129/cdh1-mutations-in-gastric-cancer-patients-from-northern-brazil-identified-by-next-generation-sequencing-ngs
#14
Antonette El-Husny, Milene Raiol-Moraes, Marcos Amador, André M Ribeiro-Dos-Santos, André Montagnini, Silvanira Barbosa, Artur Silva, Paulo Assumpção, Geraldo Ishak, Sidney Santos, Pablo Pinto, Aline Cruz, Ândrea Ribeiro-Dos-Santos
Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 germline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer...
May 13, 2016: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/27075348/diagnosis-and-management-of-hereditary-gastric-cancer
#15
Kevin John Monahan, Laura Hopkins
A positive family history is consistently reported as a risk factor for gastric cancer (GC), but the molecular basis for the familial aggregation is largely unknown. The risk associated with having one first-degree relative (FDR) with GC is approximately 1.3-3.5 fold increased. Hereditary cancer syndromes have been relatively well characterised, but their rarity largely precludes the development of trials of surveillance. In hereditary diffuse gastric cancer (HDGC), patients have a CDH1 mutation that results in a high penetrance of GC meaning that prophylactic gastrectomy is recommended, although this treatment results in significant psychosocial issues...
2016: Recent Results in Cancer Research
https://www.readbyqxmd.com/read/27064202/panel%C3%A2-testing-reveals-nonsense-and-missense-cdh1-mutations-in-families-without-hereditary-diffuse-gastric-cancer
#16
Julie M Huynh, Christina M Laukaitis
BACKGROUND: The reported penetrance of germline CDH1 mutations is high in families with hereditary diffuse gastric cancer (HDGC). Men and women have a 70% and 56%, respectively, cumulative risk of developing diffuse gastric cancer by age 80. Women additionally have a 42% cumulative risk of developing breast cancer. Due to the high penetrance of these mutations, prophylactic total gastrectomy is currently recommended for CDH1 mutation carriers. However, whether everyone with a CDH1 gene mutation is at risk for HDGC is not clear...
March 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/26974991/managing-patients-at-genetic-risk-of-breast-cancer
#17
REVIEW
Holly J Pederson, Shilpa A Padia, Maureen May, Stephen Grobmyer
Hereditary syndromes that increase the risk of breast cancer are not common, but it is critical to recognize and manage them appropriately. This paper reviews the management of patients with the most common hereditary breast cancer syndromes, ie, hereditary breast and ovarian cancer syndrome, hereditary diffuse gastric cancer, Cowden syndrome (PTEN hamartoma tumor syndrome), Peutz-Jeghers syndrome, and Li-Fraumeni syndrome.
March 2016: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/26898681/risk-reduction-surgery-in-pediatric-surgical-oncology-a-perspective
#18
REVIEW
John A Sandoval, Israel Fernandez-Pineda, Alpin D Malkan
OBJECTIVE: A small percentage of pediatric solid cancers arise as a result of clearly identified inherited predisposition syndromes and nongenetic lesions. Evidence supports preemptive surgery for children with genetic [multiple endocrine neoplasia type 2 (MEN2), familial adenomatous polyposis syndrome (FAP), hereditary nonpolyposis colorectal cancer (HNPCC), and hereditary diffuse gastric cancer (HDGC) and nongenetic [thyroglossal duct cysts (TGDC), congenital pulmonary airway malformations (CPAM), alimentary tract duplication cysts (ATDC), and congenital choledochal cysts (CCC)] developmental anomalies...
April 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/26759166/cdh1-germline-mutations-and-hereditary-lobular-breast-cancer
#19
REVIEW
Giovanni Corso, Mattia Intra, Chiara Trentin, Paolo Veronesi, Viviana Galimberti
Hereditary diffuse gastric cancer is an autosomal dominant inherited disease associated of CDH1 germline mutations (that encodes for the E-cadherin protein), and lobular breast cancer is the second most frequent type of neoplasia. Recently, novel E-cadherin constitutional alterations have been identified in pedigree clustering only for lobular breast carcinoma without evidence of diffuse gastric tumors and in absence of BRCA1/2 mutations. This first evidence opens novel questions about the inherited correlation between diffuse gastric and lobular breast cancers...
April 2016: Familial Cancer
https://www.readbyqxmd.com/read/26570890/1229-beyond-hellp-peripartum-catastrophic-thromboembolism-due-to-hereditary-diffuse-gastric-cancer
#20
Udit Dhal, Omar Rahman, Rajat Kapoor, Emily Gundert
No abstract text is available yet for this article.
December 2015: Critical Care Medicine
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