Publications by the team

Publications

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. 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

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 (499kb)

Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. Emma Z. Mi, BA, Ella Z. Mi, BA, Massimiliano di Pietro, MD, Maria O’Donovan, MD, FRCPath, Richard H. Hardwick, MD, FRCS, Susan Richardson, RGN, Hisham Ziauddeen, PhD, MRCPsych, Paul C. Fletcher, PhD, FRCPsych, Carlos Caldas, MD, FMedSci, Marc Tischkowitz, MD, PhD, Krish Ragunath, MD, FRCP, Rebecca C. Fitzgerald, MD, FMedSci

Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status (1mb)

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. Rachel S van der Post, Ingrid P Vogelaar, Fátima Carneiro, Parry Guilford, David Huntsman, Nicoline Hoogerbrugge, Carlos Caldas, Karen E Chelcun Schreiber, Richard H Hardwick, Margreet G E M Ausems, Linda Bardram, Patrick R Benusiglio, Tanya M Bisseling, Vanessa Blair, Eveline Bleiker, Alex Boussioutas, Annemieke Cats, Daniel Coit, Lynn DeGregorio, Joana Figueiredo, James M Ford, Esther Heijkoop, Rosella Hermens, Bostjan Humar, Pardeep Kaurah, Gisella Keller, Jennifer Lai, Marjolijn J L Ligtenberg, Maria O’Donovan, Carla Oliveira, Hugo Pinheiro, Krish Ragunath, Esther Rasenberg, Susan Richardson, Franco Roviello, Hans Schackert, Raquel Seruca, Amy Taylor, Anouk ter Huurne, Marc Tischkowitz, Sheena Tjon A Joe, Benjamin van Dijck, Nicole C T van Grieken, Richard van Hillegersberg, Johanna W van Sandick, Rianne Vehof, J Han van Krieken, Rebecca C Fitzgerald.

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers (15mb)

The Impact of Prophylactic Total Gastrectomy on Health-Related Quality of Life – A Prospective Cohort Study. Elizabeth Worster, Xinxue Liu, PhD, Susan Richardson, RGN, Richard H. Hardwick, MD,
Sarah Dwerryhouse, MSc, Carlos Caldas, MD, and Rebecca C. Fitzgerald, MD

The Impact of Prophylactic Total Gastrectomy on Health-Related Quality of Life (288KB)


Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance. Yean Cheant Lim, MBChB, MRCP,1 Massimiliano di Pietro MD, Maria O’Donovan MD FRCPath, Susan Richardson RGN, Irene Debiram MSc, Susan Dwerryhouse MSc, Richard H. Hardwick MD FRCS, Marc Tischkowitz PhD MRCP, Carlos Caldas MD FMedSci, Krish Ragunath MD FRCP, Rebecca C. Fitzgerald MD FMedSci2

Assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance (1.2MB)


Hereditary Diffuse Gastric Cancer: Updated consensus guidelines for clinical management and directions for future use. Rebecca C Fitzgerald, Richard Hardwick, David Huntsman, Fatima Carneiro, Parry Guilford, Vanessa Blair, Daniel C Chung, Jeff Norton, Krishnadath Ragunath, J Han Van Krieken, Sarah Dwerryhouse, Carlos Caldas

Hereditary Diffuse Gastric Cancer: Updated consensus guidelines for clinical management and directions for future use (901KB)


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

Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. (464 KB)


Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer 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

Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer (461 KB)


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

Germline CDH1 deletions in hereditary diffuse gastric cancer families (494 KB)


Pregnancy after prophylactic total gastrectomy
Springer Science+Business Media B.V. 2010.
Pardeep Kaurah, Rebecca Fitzgerald, Sarah Dwerryhouse, David G. Huntsman

Pregnancy after prophylactic total gastrectomy (162 KB)


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. 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

Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. Emma Z. Mi, BA, Ella Z. Mi, BA, Massimiliano di Pietro, MD, Maria O’Donovan, MD, FRCPath, Richard H. Hardwick, MD, FRCS, Susan Richardson, RGN, Hisham Ziauddeen, PhD, MRCPsych, Paul C. Fletcher, PhD, FRCPsych, Carlos Caldas, MD, FMedSci, Marc Tischkowitz, MD, PhD, Krish Ragunath, MD, FRCP, Rebecca C. Fitzgerald, MD, FMedSci Cambridge, Nottingham, United Kingdom.

 

Decision making, quality of life and prophylactic gastrectomy in carriers of pathogenic CDH1 mutations. Geoffrey Roberts, Richard Hardwick, Rebecca C. Fitzgerald. 

 

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. Rachel S van der Post,1 Ingrid P Vogelaar,2 Fátima Carneiro,3,4,5,6 Parry Guilford,7 David Huntsman,8 Nicoline Hoogerbrugge,2 Carlos Caldas,9 Karen E Chelcun Schreiber,10 Richard H Hardwick,11 Margreet G E M Ausems,12 Linda Bardram,13 Patrick R Benusiglio,14 Tanya M Bisseling,15 Vanessa Blair,16 Eveline Bleiker,17 Alex Boussioutas,18,19 Annemieke Cats,20 Daniel Coit,21 Lynn DeGregorio,22 Joana Figueiredo,3,4 James M Ford,23 Esther Heijkoop,24 Rosella Hermens,25 Bostjan Humar,26 Pardeep Kaurah,27 Gisella Keller,28 Jennifer Lai,10 Marjolijn J L Ligtenberg,1,2 Maria O’Donovan,29 Carla Oliveira,3,4,5 Hugo Pinheiro,3,4 Krish Ragunath,30 Esther Rasenberg,31 Susan Richardson,32 Franco Roviello,33 Hans Schackert,34 Raquel Seruca,3,4,5 Amy Taylor,35 Anouk ter Huurne,36 Marc Tischkowitz,37 Sheena Tjon A Joe,23 Benjamin van Dijck,36 Nicole C T van Grieken,38 Richard van Hillegersberg,39 Johanna W van Sandick,40

Rianne Vehof,41 J Han van Krieken,1 Rebecca C Fitzgerald42,43,44

Identification of Germ-line E-cadherin Mutations in Gastric cancer families of European origin. Cancer Research Sept 15 1998;58:4086-9. Gayther S, Gorringe K, Ramus S, Huntsman D, Roviello F, Grehan N, Machadc J, Pinto E, Seruca R, Halling K, MacLeod P, Powell S, Jackson C, Ponder B, Caldas C.

Familial gastric cancer: overview and guidelines for management. Journal for Medical Genetics Dec 1999; 36:873-880. Caldas C, Carneiro F, Lynch H, Yakota J, Wiesner G, Powell S, Lewis F, Huntsman D, Pharoah P, Jankowski J, MacLeod P, Vogelsang H, Keller G,  Park K, Richards F, Maher E, Gayther S, Oliveira C, Grehan N, Wight D, Seruca R, Roviello F, Ponder B, Jackson C.

Early gastric cancer in young, asymptomatic carriers of germ-line E- cadherin mutations. N Engl J Med 2001; 344 25:1904-9. Huntsman D, Carneiro F, Lewis F, MacLeod P, Hayashi A, Monaghan K, Maung R, Seruca R, Jackson C, Caldas C

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

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 2002; 19 5:510-517 Oliveira C, Bordin M, Grehan N, Huntsman D, Suriano G, Machado J, Kiviluoto T, Aaltonen L, Jackson C, 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.

Germline E-cadherin mutations in Hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria J Medical Genetics 2004;41:508-517 Brooks-Wilson A, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield Y, Jeyes J, Schinas, Bacani J, Kelsey M, Ferreira P, MacGillivray B, MacLeod P,Micek M, Ford J, Foulkes W, Australie K, Greenberg C, LaPointe M, Gilpin C, Nikkel S, Gilchrist D, Hughes R, Jackson C, Monaghan, Oliveira M, Seruca R, Gallinger S,  Caldas C, Huntsman D.

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 2006;32: 1110-1113. 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 2006; 20: 735-743. Barber M, Fitzgerald RC and Caldas C .

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

Oral presentations

Barber M, Hyland S, Grehan N, Save V, Caldas C and Fitzgerald RC, Inactivation of the Second Allele in Patients with Hereditary Diffuse Gastric Cancer Harbouring Germline E-cadherin Mutations, Gut, 56 supplement11: A30, 2007

Poster presentations

Lim YC, Debiram I, O’Donovan M, Richardson S, Dwerryhouse S, di Pietro M, Caldas C, Ragunath K, Fitzgerald R ‘Trimodal imaging to identify microscopic foci of signet ring cells in Hereditary Diffuse Gastric Cancer’. BSG11-ABS-1237

Barber M, Hyland S, Grehan N, Caldas C and Fitzgerald RC, Inactivation of the Second Allele in Patients with Hereditary Diffuse Gastric Cancer Harbouring Germline E-cadherin Mutations, 2nd Prize Winner at the University of Cambridge Graduate School Symposium 2007

Barber M, Hyland S, Grehan N, Caldas C and Fitzgerald RC, Inactivation of the Second Allele in Patients with Hereditary Diffuse Gastric Cancer Harbouring Germline E-cadherin Mutations, American Association for Cancer Research Annual Meeting: Proceedings; 2007 Apr 14-18; Los Angeles, CA: AACR; 2007. Abstract 1145

Barber M, Hyland S, Grehan N, Save V, Caldas C and Fitzgerald RC, Somatic Mutation as a Possible ‘Second Hit’ in Hereditary Diffuse Gastric Cancer Patients with E-cadherin Germ-Line Mutations, Gastroenterology, 130(4) supplement2: A-638, 2006

 

Please contact the team for more information about these publications