RT Journal Article
SR Electronic
T1 Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline <em>CDH1</em> mutation carriers
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 361
OP 374
DO 10.1136/jmedgenet-2015-103094
VO 52
IS 6
A1 Rachel S van der Post
A1 Ingrid P Vogelaar
A1 Fátima Carneiro
A1 Parry Guilford
A1 David Huntsman
A1 Nicoline Hoogerbrugge
A1 Carlos Caldas
A1 Karen E Chelcun Schreiber
A1 Richard H Hardwick
A1 Margreet G E M Ausems
A1 Linda Bardram
A1 Patrick R Benusiglio
A1 Tanya M Bisseling
A1 Vanessa Blair
A1 Eveline Bleiker
A1 Alex Boussioutas
A1 Annemieke Cats
A1 Daniel Coit
A1 Lynn DeGregorio
A1 Joana Figueiredo
A1 James M Ford
A1 Esther Heijkoop
A1 Rosella Hermens
A1 Bostjan Humar
A1 Pardeep Kaurah
A1 Gisella Keller
A1 Jennifer Lai
A1 Marjolijn J L Ligtenberg
A1 Maria O'Donovan
A1 Carla Oliveira
A1 Hugo Pinheiro
A1 Krish Ragunath
A1 Esther Rasenberg
A1 Susan Richardson
A1 Franco Roviello
A1 Hans Schackert
A1 Raquel Seruca
A1 Amy Taylor
A1 Anouk ter Huurne
A1 Marc Tischkowitz
A1 Sheena Tjon A Joe
A1 Benjamin van Dijck
A1 Nicole C T van Grieken
A1 Richard van Hillegersberg
A1 Johanna W van Sandick
A1 Rianne Vehof
A1 J Han van Krieken
A1 Rebecca C Fitzgerald
YR 2015
UL http://jmg.bmj.com/content/52/6/361.abstract
AB Germline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genetic testing, surgery, surveillance strategies, pathology reporting and the patient's perspective on multiple aspects, including diet post gastrectomy. The updated guidelines include revised CDH1 testing criteria (taking into account first-degree and second-degree relatives): (1) families with two or more patients with gastric cancer at any age, one confirmed DGC; (2) individuals with DGC before the age of 40 and (3) families with diagnoses of both DGC and LBC (one diagnosis before the age of 50). Additionally, CDH1 testing could be considered in patients with bilateral or familial LBC before the age of 50, patients with DGC and cleft lip/palate, and those with precursor lesions for signet ring cell carcinoma. Given the high mortality associated with invasive disease, prophylactic total gastrectomy at a centre of expertise is advised for individuals with pathogenic CDH1 mutations. Breast cancer surveillance with annual breast MRI starting at age 30 for women with a CDH1 mutation is recommended. Standardised endoscopic surveillance in experienced centres is recommended for those opting not to have gastrectomy at the current time, those with CDH1 variants of uncertain significance and those that fulfil hereditary DGC criteria without germline CDH1 mutations. Expert histopathological confirmation of (early) signet ring cell carcinoma is recommended. The impact of gastrectomy and mastectomy should not be underestimated; these can have severe consequences on a psychological, physiological and metabolic level. Nutritional problems should be carefully monitored.