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Here you will find the most current IGCLC Hereditary Diffuse Gastric Cancer (HDGC) Clinical Guidelines as well as links to other research and studies that are relevant to Hereditary Diffuse Gastric Cancer and CDH1 gene mutations.

Allosteric AKT inhibitors target synthetic lethal vulnerabilities in E-cadnerin-deficient cells (2019)
Nicola Bougen-Zhukov, Yasmin Nouri, Tanis Godwin, Megan Taylor, Christopher Hakkaart, Andrew Single, Tom Brew, Elizabeth Permina, Augustine Chen, Michael A. Black and Parry Guilford

A high-throughput screen to identify novel synthetic lethal compounds for the treatment of E-cadherin-deficient cells (August 2019)
Henry Beetham, Augustine Chen, Bryony J. Telford, Andrew Single, Kate E. Jarman, Kurt Lackovic, Andreas Luxenburger & Parry Guilford

Hereditary diffuse gastric cancer: an overview for primary care (September 2018)
The Best Practice Advocacy Center, New Zealand
Mr. Jeremy Rossaak, Professor Parry Guilford, Yasmin Nouri, Dr. Margaret Charles

E-cadherin-deficient cells have synthetic lethal vulnerabilities in plasma membrane organization, dynamics and function (July 2018)
Tanis D. Godwin, S. Thomas Kelly, Tom P. Brew, Nicola M. Bougen-Zhukov, Andrew B. Single, Augustine Chen, Cassie E. Stylianou, Lawrence D. Harris, Sophie K. Currie, Bryony J. Telford, Henry G. Beetham, Gary B. Evans, Michael A. Black, Parry J. Guilford

Germline CDH1 muations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Maori (2018)
Christopher Hakkaart, Lis Ellison-Loschmann, Robert Day, Andrew Sporle, Jonathan Koea, Pauline Harawira, Soo Cheng, Michelle Gray, Tracey Whaanga, Neil Pearce, Parry Guilford

Synthetic Lethal Screens Identify Vulnerabilities in GPCR Signaling and Cytoskeletal Organization in E-Cadherin-Deficient Cells (2015)
Bryony J. Telford, Augustine Chen, Henry Beetham, James Frick, Tom P. Brew, Cathryn M. Gould, Andrew Single, Tanis Godwin, Kaylene J. Simpson, and Parry Guilford

Current HDGC Clinical Guidelines

Hereditary Diffuse Gastric Cancer: Updated Clinical Practice Guidelines (2020)

Hereditary Diffuse Gastric Cancer: Updated Clinical Practice Guidelines Supplementary Appendix (2020)

Hereditary Diffuse Gastric Cancer Fact Sheet (2020)

Paving the Way: A Grounded Theory of Discovery and Decision Making for Individuals With the CDH1 Marker (2020)
Cheryl L. Hersperger, PhD, RN, PHNA-BC, Jean Boucher, PhD, RN, ANP-BC, AOCNP, and Rosemary Theroux, PhD, WHNP-BC.

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation. A Multidisciplinary Clinical Review (2020)
Corso G, Montagna G, Figueiredo J, La Vecchia C, Fumagalli Romario U, Fernandes MS, Seixas S, Roviello F, Trovato C, Guerini-Rocco E, Fusco N, Pravettoni G, Petrocchi S, Rotili A, Massari G, Magnoni F, De Lorenzi F, Bottoni M, Galimberti V, Sanches JM, Calvello M, Seruca R, Bonanni B. Cancers (Basel). 2020 Jun 17;12(6):1598. doi: 10.3390/cancers12061598.

Establishing a center of excellence for hereditary diffuse gastric cancer syndrome (2019)
Justin Drake MD, Karen Chelcun Schreiber, Rachael Lopez MPH RD, Grace‐Ann Fasaye CGC, Maureen Connolly RN, Martha Quezado MD, Theo Heller MD, Jonathan M. Hernandez MD, Jeremy L. Davis MD

Familial Gastric Cancers (2015)
Namrata Setia, Jeffrey W. Clark, Dan G. Duda, Theodore S. Hong, Eunice L. Kwak, John T. Mullen, Gregory Y. Lauwers
Departments of Pathology, Hematology/Oncology, Radiation Oncology, and Surgical Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond (2015)
Samantha Hansford, MSc1,2; Pardeep Kaurah, MSc3,5; Hector Li-Chang, MD1,2; et al

Hereditary Diffuse Gastric Cancer: A Family Diagnosis and Treatment (2013)
Adedayo A. Onitilo, MD, MSCR, FACP, Govinda Aryal, MD, and Jessica M. Engel, MS, RN

Endoscopic Surveillance of Patients With Hereditary Diffuse Gastric Cancer (2012)
Biopsy Recommendations After Topographic Distribution of Cancer Foci in a Series of 10 CDH1-mutated Gastrectomies
Hiroshi Fujita, MD, PhD, Jochen K.M. Lennerz, MD, PhD, Daniel C. Chung, MD, Devanshi Patel, MS, CGC, Vikram Deshpande, MD, Sam S. Yoon, MD, and Gregory Y. Lauwers, MD

Clinical spectrum and pleiotropic nature of CDH1 germline mutations (2019)
Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, Guilford P, Paredes J, Seruca R. J Med Genet. 2019 Apr;56(4):199-208. doi: 10.1136/jmedgenet-2018-105807. Epub 2019 Jan 19.

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care (2018)
Stephany Tandy-Connor MS, Jenna Guiltinan MS, Kate Krempely MS, Holly LaDuca MS, Patrick Reineke BS, Stephanie Gutierrez BS, Phillip Gray PhD & Brigette Tippin Davis PhD, FACMG

The known unknown: the challenges of genetic variants of uncertain significance in clinical practice (2017)
Lily Hoffman-Andrews

Unexpected CDH1 Mutations Identified on Multigene Panels Pose Clinical Management Challenges (2017)
Katrina Lowstuter, Carin R. Espenschied, Duveen Sturgeon, et al

Totally Unexpected: Nonsyndromic CDH1 Mutations and Hereditary Diffuse Gastric Cancer Syndrome (2017)
James M. Ford, Stanford University School of Medicine, Stanford CA

Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer (2017)
Melo S, Figueiredo J, Fernandes MS, Gonçalves M, Morais-de-Sá E, Sanches JM, Seruca R. Int J Mol Sci. 2017 Dec 12;18(12):2687. doi: 10.3390/ijms18122687.

Familial gastric cancer: Genetic susceptibility, pathology, and implications for management (2015)
Carla Oliveira, Hugo Pinheiro, Joana Figueiredo, Raquel Seruca, Fátima Carneiro


Linear-Stapled Side-to-Side Esophagojejunostomy with Hand-Sewn Closure of the Common Enterotomy After Prophylactic and Therapeutic Total Gastrectomy (2016)
Kevin K. Chang, Madhukar S. Patel, Sam S. Yoon

Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center (2016)
Postsurgical Outcomes in 41 Patients
Vivian E. Strong, MD, Sepideh Gholami, MD, Manish A. Shah, MD,y Laura H. Tang, MD, PhD, Yelena Y. Janjigian, MD, Mark Schattner, MD, Luke V. Selby, MD, Sam S. Yoon, MD, Erin Salo-Mullen, MS, CGC, Zsofia K. Stadler, MD, David Kelsen, MD, Murray F. Brennan, MD, and Daniel G. Coit, MD

Prophylactic total gastrectomy for individuals with germline CDH1 mutation (2011)
Prakash K. Pandalai, MD, Greg Y. Lauwers, MD, Daniel C. Chung, MD, Devanshi Patel, MS,and Sam S. Yoon, MD, Boston, MA, and Philadelphia, PA

Prophylactic total gastrectomy for hereditary diffuse gastric cancer: surgical and pathological results (2009)
S.S. Yoon, D. Patel, D.C. Chung, G.Y. Lauwers
Department of Surgery, Center for Cancer Risk Analysis, Department of Medicine, Department of Pathology, Massachusetts General Hospital, Boston MA 02115 USA

Pregnancy after prophylactic total gastrectomy (Jan 2010)
Pardeep Kaurah, Rebecca Fitzgerald, Sarah Dwerryhouse, David Huntsman

Hereditary diffuse gastric cancer: cancer risk and the personal cost of preventive surgery (2019)
P. Kaurah, A. Talhouk, A. MacMillan, I. Lewis, K. Chelcun-Schreiber, S.S. Yoon, D. Huntsman

The Impact of Prophylactic Gastrectomy on Health Related Quality of Life (2014)
Elizabeth Worster, Xinxue Liu, PhD, Susan Richardson, RGN, Richard H. Hardwick, MD,
Sarah Dwerryhouse, MSc, Carlos Caldas, MD, and Rebecca C. Fitzgerald, MD

The Psychosocial Implications of Hereditary Diffuse Gastric Cancer (HDGC) (2009)
Marcina Beaston-Casey, Genetics Counseling Student, Brandeis University, Waltham MA

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