Title |
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
|
---|---|
Published in |
Journal of Medical Genetics, May 2015
|
DOI | 10.1136/jmedgenet-2015-103094 |
Pubmed ID | |
Authors |
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 |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 5 | 26% |
Turkey | 1 | 5% |
Italy | 1 | 5% |
Brazil | 1 | 5% |
Bahrain | 1 | 5% |
United Kingdom | 1 | 5% |
Unknown | 9 | 47% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 12 | 63% |
Practitioners (doctors, other healthcare professionals) | 5 | 26% |
Science communicators (journalists, bloggers, editors) | 1 | 5% |
Scientists | 1 | 5% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | <1% |
Brazil | 1 | <1% |
Unknown | 438 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 60 | 14% |
Researcher | 56 | 13% |
Student > Ph. D. Student | 46 | 10% |
Student > Bachelor | 46 | 10% |
Other | 42 | 10% |
Other | 81 | 18% |
Unknown | 109 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 169 | 38% |
Biochemistry, Genetics and Molecular Biology | 51 | 12% |
Agricultural and Biological Sciences | 38 | 9% |
Nursing and Health Professions | 10 | 2% |
Immunology and Microbiology | 7 | 2% |
Other | 36 | 8% |
Unknown | 129 | 29% |