NDLI: Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations

Please wait, while we are loading the content...

Impact of familial risk and mammography screening on prognostic indicators of breast disease among women from the Ontario site of the Breast Cancer Family Registry

RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women

A randomized controlled trial of diet and physical activity in BRCA mutation carriers

Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme

Baseline and post prophylactic tubal–ovarian surgery CA125 levels in BRCA1 and BRCA2 mutation carriers

Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea

Barrett’s esophagus in the patients with familial adenomatous polyposis

Inversion of exons 1–7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population

Is intraductal tubulopapillary neoplasia a new entity in the spectrum of familial pancreatic cancer syndrome?

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study

The MUTYH hotspot mutations p.G396D and p.Y179C do not cause substantial genetic susceptibility to biliary cancer

Capsule endoscopy versus magnetic resonance enterography for the detection of small bowel polyps in Peutz–Jeghers syndrome

Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families

Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation

Deletion of exons 1–3 of the MEN1 gene in a large Italian family causes the loss of menin expression

Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC)

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes

Evaluation after five years of the cancer genetic counselling programme of Valencian Community (Eastern Spain)

Attitudes and knowledge of medical practitioners to hereditary cancer clinics and cancer genetic testing

Providing patient education: impact on quantity and quality of family health history collection

Familial Cancer : Volume 13, Issue 1, March 2014

Familial Cancer : Volume 12

Familial Cancer : Volume 11

Familial Cancer : Volume 10

Familial Cancer : Volume 9

Familial Cancer : Volume 8

Familial Cancer : Volume 7

Familial Cancer : Volume 6

Familial Cancer : Volume 5

Familial Cancer : Volume 4

Familial Cancer : Volume 3

Familial Cancer : Volume 2

Familial Cancer : Volume 1

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study

Content Provider	Springer Nature Link
Author	Bardram, Linda Hansen, Thomas V. O. Gerdes, Anne Marie Timshel, Susanne Friis Hansen, Lennart Federspiel, Birgitte
Copyright Year	2014
Abstract	Inactivating mutations in the CDH1 (E-cadherin) gene are the predisposing cause of gastric cancer in most families with hereditary diffuse gastric cancer (HDGC). The lifetime risk of cancer in mutation positive members is more than 80 % and prophylactic total gastrectomy is recommended. Not all mutations in the CDH1 gene are however pathogenic and it is important to classify mutations before this major operation is performed. Probands from two Danish families with gastric cancer and a history suggesting HDGC were screened for CDH1 gene mutations. Two novel CDH1 gene mutations were identified and found pathogenic. In silico and mini-gene assay were used to predict the functional consequence in one of them. Mutation carriers were offered endoscopy and total gastrectomy. The gastric specimens were completely sectioned and examined histologically. Seven asymptomatic mutation carriers were operated. Hospital stay was 6–8 days and there were no complications. Small foci of diffuse gastric cancer were found in all patients—intramucosal in six and advanced in one. Preoperative endoscopic biopsies had revealed a microscopic cancer focus in two of the patients. Our data confirmed the pathogenic nature of both mutations and strongly support the recommendation of total gastrectomy in asymptomatic CDH1 gene mutation carriers. The functional consequences of novel CDH1 gene mutations with uncertain effects should be tested before correct advice and treatment can be given.
Starting Page	231
Ending Page	242
Page Count	12
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	13
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2014-01-04
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	CDH-1 mutation Prophylactic gastrectomy Hereditary gastric cancer Functional mutation study In silico analysis Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Hereditary diffuse gastric cancer: association with lobular breast cancer

Hereditary diffuse gastric cancer: association with lobular breast cancer

An investigation of the factors effecting high-risk individuals’ decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC)

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland

Prophylactic Gastrectomy in Familial Gastric Cancer: Case Report and Review of Literature

Hereditary Diffuse Gastric Cancer—Update Based on the Current Consort Recommendations

Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports.

Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study

Similar Documents

Hereditary diffuse gastric cancer: association with lobular breast cancer

Hereditary diffuse gastric cancer: association with lobular breast cancer

An investigation of the factors effecting high-risk individuals’ decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC)

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland

Prophylactic Gastrectomy in Familial Gastric Cancer: Case Report and Review of Literature

Hereditary Diffuse Gastric Cancer—Update Based on the Current Consort Recommendations

Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports.

Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study