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Familial gastric cancer study publications

Identification of Germ-line E-cadherin Mutations in Gastric cancer families of European origin. Cancer Research Sept 15 1998

Familial gastric cancer: overview and guidelines for management.

Journal for Medical Genetics Dec 1999

Early gastric cancer in young, asymptomatic carriers of germ-line E- cadherin mutations. N Engl J Med 2001, 344(25):1904-9.

Huntsman DG, Carneiro F, Lewis FR, MacLeod PM, Hayashi A, Monaghan KG,

Maung R, Seruca R, Jackson CE, Caldas C

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 2002 May; 19(5):510-517

Oliveira C, Bordin MC, Grehan N, Huntsman D, Suriano G, Machado JC, Kiviluoto T, Aaltonen L, Jackson CE, Seruca R, Caldas C.

E-cadherin mutations and hereditary gastric cancer: Prevention by resection? Digestive diseases 2002; 20:23-31 RC Fitzgerald, C Caldas

Clinical implications of E-cadherin associated hereditary diffuse gastric cancer Gut 2004; 53, 775-778 R C Fitzgerald and C Caldas

Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families Gastroenterology 2001 Dec; 121(6):1348-53 Pharoah, Guilford, Caldas

Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria Journal of Medical Genetics 2004; 41 Huntsman, Caldas et al

A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Spain. European Journal of Surgical Oncology, 32: 1110-1113, 2006 Rodriguez-Sanjuan JC, Fontalba A, Mayorga M, Bordin MC, Hyland SJ, Trugeda S, Garcia RA, Gomez-Fleitas M, Fernandez F, Caldas C, Fernandez-Luna JL.

Familial gastric cancer- clinical management. Best Practice & Research Clinical Gastroenterology, 20: 735-743, 2006 Fitzgerald RC and Caldas C

Familial gastric cancer- aetiology and pathogenesis. Best Practice & Research Clinical Gastroenterology, 20: 721-734, 2006 Barber M, Fitzgerald RC and Caldas C.

Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. Journal of Pathology 2008 216(3) ME Barber, V Save, F Carneiro, S Dwerryhouse, P Lao-Sirieix, RH Hardwick, C Caldas, and RC Fitzgerald

Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer Journal of Pathology 2008 216 (3) M Barber, A Murrell, Y Ito, A-T Maia, S Hyland, C Oliveira, V Save, F Carneiro, AL Paterson, N Grehan, S Dwerryhouse, P Lao-Sirieix, C Caldas and RC Fitzgerald

Germline CDH1 deletions in hereditary diffuse gastric cancer families. Human Molecular Genetics, 2009, Vol. 18, No. 9

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. Journal of Medical Genetics 2010; 47: 436-444

Pregnancy after Prophylactic Total Gastrectomy: Familial Cancer 09/01/2010, Pardeep Kaurah, Rebecca Fitzgerald, Sarah Dwerryhouse, David G Huntsman

The Impact of prophylactic Total gastrectomy on Health-Related Quality of Life. A prospective Cohort Study: Annals of Surgery: 2014, 00:1-7,Worster et al

Prospective cohort study assessing outcomes of patients from families fulfilling criteria for Hereditary Diffuse Gastric Cancer undergoing endoscopic surveillance: American Society Gastrointestinal Endoscopy 2014; 1-10, Yean Cheant Lim et al

Hereditary Diffuse Gastric Cancer: Updated clinical guidelines with an emphasis on germline CDH1 mutation carriers: British Medical Journal 2015;52:361-374, Van der Post RS, et al

Hereditary Diffuse gastric Syndrome CDH1 Mutation and Beyond:,2015; 1(1):23-32 Samantha Hansford et al

An investigation of the factors effecting high-risk individuals’ decision-making about prophylactic total gastrectomy and surveillance for Hereditary Diffuse gastric Cancer

(HDGC): Familial Cancer, published 2/06/2016, Nina Hallowell, Shirline Badger, Sue Richardson, Carlos Cardas, Richard H Hardwick, Rebecca Fitzgerald and Julia Lawton

The psychosocial impact of undergoing prophylactic total gastrectomy (PTG) to manage the risk of Hereditary Diffuse Gastric Cancer (HDGC: The Journal of Genetic Counselling, published Counselling11/11/2016 Nina Hallowell, Shirline Badger, Sue Richardson, Carlos Cardas, Richard Hardwick, Rebecca Fitzgerald and Julia Lawton.

High-risk individuals’ perceptions of reproductive genetic testing for CDH1 mutations.

Familial Cancer, published 15/02/2017 Nina Hallowell, Shirline Badger, Sue Richardson, Carlos Cardas, Richard H Hardwick, Rebecca Fitzgerald and Julia Lawton

Decision making, quality of life and prophylactic gastrectomy in carriers of pathogenic CDH1 mutations. TGH Translational Gastroenterology and Hepatology, published 23/03/2017 Geoff Roberts, Richard Hardwick, Rebecca Fitzgerald.

A comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. Gastrointestinal Endoscopy, published 06/07/2017

Rebecca Fitzgerald, et al

Germline pathogenic variants in the PALB2 and other cancer predisposing genes in families with HDGC without the CDH1 mutation: a whole- exome sequencing study.

Published in the Lancet 26/04/2018 E. Fewings et al.

HDGC Mapping single v doube bite Published in the Thieme July 2020 A Pappos et al

HDGC: updated clinical practice guidelines Published in the lancet Aug 2020