Hereditary diffuse gastric cancer: updated clinical practice guidelines - 04/08/20
Doi : 10.1016/S1470-2045(20)30219-9
Vanessa R Blair, FRACS a, b, Maybelle McLeod c, Fátima Carneiro, ProfMD d, Daniel G Coit, ProfMD e, Johanna L D’Addario, MHS f, Jolanda M van Dieren, MD g, Kirsty L Harris, BPharm h, Nicoline Hoogerbrugge, ProfMD i, Carla Oliveira, ProfPhD d, Rachel S van der Post, MD j, Julie Arnold l, Patrick R Benusiglio, MD o, Tanya M Bisseling, MD k, Alex Boussioutas, ProfMBBS p, Annemieke Cats, MD g, Amanda Charlton, MBChB m, Karen E Chelcun Schreiber f, Jeremy L Davis, MD q, Massimiliano di Pietro, MD r, Rebecca C Fitzgerald, ProfMD r, James M Ford, ProfMD t, Kimberley Gamet n, Irene Gullo, MD d, Richard H Hardwick, FRCS u, David G Huntsman, ProfMD v, Pardeep Kaurah, PhD w, x, Sonia S Kupfer, MD y, Andrew Latchford, MD z, aa, Paul F Mansfield, ProfMD ab, Takeshi Nakajima, MD ac, Susan Parry, MBChB l, Jeremy Rossaak, FRACS ad, Haruhiko Sugimura, ProfMD af, Magali Svrcek, ProfMD ag, Marc Tischkowitz, MD s, Toshikazu Ushijima, MD ah, Hidetaka Yamada, PhD af, Han-Kwang Yang, Prof ai, Adrian Claydon, MBChB ae, Joana Figueiredo, PhD d, Karyn Paringatai, PhD aj, Raquel Seruca, ProfPhD d, Nicola Bougen-Zhukov, PhD ak, Tom Brew, MSc ak, Simone Busija am, Patricia Carneiro, PhD d, Lynn DeGregorio, MBA an, Helen Fisher, DipEd h, Erin Gardner c, Tanis D Godwin, MSc ak, Katharine N Holm, BS ao, Bostjan Humar, PhD ap, Caroline J Lintott, PhD aq, Elizabeth C Monroe, MS an, Mark D Muller, MBChB ar, Enrique Norero, MD as, Yasmin Nouri, MSc ak, Joana Paredes, PhD d, João M Sanches, PhD at, Emily Schulpen, BSc [Hons] ak, Ana S Ribeiro, PhD d, Andrew Sporle, MA al, James Whitworth, PhD s, Liying Zhang, MD au, Anthony E Reeve, ProfPhD ak, Parry Guilford, ProfPhD ak, ⁎ 
a Department of Surgery, University of Auckland, Auckland, New Zealand
b St Marks Breast Centre, Auckland, New Zealand
c Kimihauora Health and Research Clinic, Mt Maunganui, New Zealand
d Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology of the University of Porto, Department of Pathology, University of Porto, Porto, Portugal
e Memorial Sloan Kettering Cancer Center and Weill Cornell Medical School, New York, NY, USA
f HereditaryDiffuseGastricCancer.org, Madison, WI, USA
g Department of Gastrointestinal Oncology, The Netherlands Cancer Institute, Amsterdam, Netherlands
h Brisbane, QLD, Australia
i Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands
j Department of Pathology, Radboud University Medical Centre, Nijmegen, Netherlands
k Department of Gastroenterology, Radboud University Medical Centre, Nijmegen, Netherlands
l New Zealand Familial Gastrointestinal Cancer Service, Auckland Hospital, Auckland, New Zealand
m Department of Histopathology, Auckland Hospital, Auckland, New Zealand
n Genetic Health Service New Zealand Northern Hub, Auckland Hospital, Auckland, New Zealand
o Consultation d’Oncogénétique, Unité Fonctionnelle d’Oncogénétique, Département de Génétique, DMU BioGeM, Groupe Hospitalier Pitié-Salpêtrière, Sorbonne Université, Paris, France
p Department of Medicine, Royal Melbourne Hospital and Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia
q Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
r Medical Research Council Cancer Unit, University of Cambridge, Cambridge, UK
s Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK
t Division of Oncology, Departments of Medicine and Genetics, Stanford University School of Medicine, Stanford, CA, USA
u Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, UK
v Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada
w Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
x Hereditary Cancer Program, British Columbia Cancer, Vancouver, BC, Canada
y Section of Gastroenterology, Nutrition and Hepatology, University of Chicago, Chicago, IL, USA
z St Mark’s Hospital, London, UK
aa Department of Cancer and Surgery, Imperial College, London, UK
ab University of Texas MD Anderson Cancer Center, Houston, TX, USA
ac Department of Clinical Genetic Oncology, Cancer Institute Hospital, Tokyo, Japan
ad Department of Surgery, Tauranga Hospital, Tauranga, New Zealand
ae Department of Gastroenterology, Tauranga Hospital, Tauranga, New Zealand
af Department of Tumor Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan
ag Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Department of Pathology, Hôpital Saint-Antoine, Paris, France
ah Division of Epigenomics, National Cancer Centre Research Institute, Tokyo, Japan
ai Seoul National University Hospital, Seoul, South Korea
aj Te Tumu School of Māori, Pacific and Indigenous Studies, University of Otago, Dunedin, New Zealand
ak Cancer Genetics Laboratory, Te Aho Matatū, Department of Biochemistry, University of Otago, Dunedin, New Zealand
al Healthier Lives National Science Challenge, University of Otago, Dunedin, New Zealand
am No Stomach for Cancer, Madison, WI, USA
an DeGregorio Family Foundation, New York, NY, USA
ao Department of Biochemistry and Molecular Medicine, University of California Davis School Of Medicine, Davis, CA, USA
ap Laboratory of the Swiss Hepato-Pancreato-Biliary and Transplantation Centre, Department of Surgery, University Hospital Zürich, Zurich, Switzerland
aq Genetic Health Service New Zealand South Island Hub, Christchurch Hospital, Christchurch, New Zealand
ar Mt Maunganui, New Zealand
as Esophagogastric Surgery Unit, Digestive Surgery Department, Hospital Dr Sotero del Rio, Pontificia Universidad Catolica de Chile, Santiago, Chile
at Institute for Systems and Robotics, Instituto Superior Técnico, Lisbon, Portugal
au Department of Pathology and Laboratory Medicine, UCLA David Geffen School of Medicine, Los Angeles, CA, USA
* Correspondence to: Prof Parry Guilford, Cancer Genetics Laboratory, Te Aho Matatū, Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand Cancer Genetics Laboratory Te Aho Matatū Department of Biochemistry University of Otago Dunedin 9016 New Zealand
Abstract |
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is largely caused by inactivating germline mutations in the tumour suppressor gene CDH1, although pathogenic variants in CTNNA1 occur in a minority of families with HDGC. In this Policy Review, we present updated clinical practice guidelines for HDGC from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in gastric cancer risk between families with HDGC, the growing capability of endoscopic and histological surveillance in HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients. To redress the balance between the accessibility, cost, and acceptance of genetic testing and the increased identification of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly through less restrictive age limits. Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, there is increasing confidence from the IGCLC that endoscopic surveillance in expert centres can be safely offered to patients who wish to postpone surgery, or to those whose risk of developing gastric cancer is not well defined.
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Vol 21 - N° 8
P. e386-e397 - août 2020 Retour au numéro
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