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Cited by 561

The DOI matches its Crossref record; 59 of the 59 references it cites were found in a registry or an index.

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

Open access
van der Post, Rachel S, Vogelaar, Ingrid P, Carneiro, Fátima, Guilford, Parry, Huntsman, David, Hoogerbrugge, Nicoline, Caldas, Carlos, Chelcun Schreiber, Karen E, Hardwick, Richard H, Ausems, Margreet G E M, Bardram, Linda, Benusiglio, Patrick R, Bisseling, Tanya M, Blair, Vanessa, Bleiker, Eveline, Boussioutas, Alex, Cats, Annemieke, Coit, Daniel, DeGregorio, Lynn, Figueiredo, Joana, Ford, James M, Heijkoop, Esther, Hermens, Rosella, Humar, Bostjan, Kaurah, Pardeep, Keller, Gisella, Lai, Jennifer, Ligtenberg, Marjolijn J L, O'Donovan, Maria, Oliveira, Carla, Pinheiro, Hugo, Ragunath, Krish, Rasenberg, Esther, Richardson, Susan, Roviello, Franco, Schackert, Hans, Seruca, Raquel, Taylor, Amy, ter Huurne, Anouk, Tischkowitz, Marc, Joe, Sheena Tjon A, van Dijck, Benjamin, van Grieken, Nicole C T, van Hillegersberg, Richard, van Sandick, Johanna W, Vehof, Rianne, van Krieken, J Han, Fitzgerald, Rebecca C·2015·Journal of Medical Genetics
DOI 10.1136/jmedgenet-2015-103094
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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.

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Metadata

Authors
van der Post, R. S., Vogelaar, I. P., Carneiro, F., Guilford, P., Huntsman, D., Hoogerbrugge, N., Caldas, C., Chelcun Schreiber, K. E., Hardwick, R. H., Ausems, M. G. E. M., Bardram, L., Benusiglio, P. R., Bisseling, T. M., Blair, V., Bleiker, E., Boussioutas, A., Cats, A., Coit, D., DeGregorio, L., Figueiredo, J., Ford, J. M., Heijkoop, E., Hermens, R., Humar, B., Kaurah, P., Keller, G., Lai, J., Ligtenberg, M. J. L., O'Donovan, M., Oliveira, C., Pinheiro, H., Ragunath, K., Rasenberg, E., Richardson, S., Roviello, F., Schackert, H., Seruca, R., Taylor, A., ter Huurne, A., Tischkowitz, M., Joe, S. T. A., van Dijck, B., van Grieken, N. C. T., van Hillegersberg, R., van Sandick, J. W., Vehof, R., van Krieken, J. H., & Fitzgerald, R. C.
Venue
Journal of Medical Genetics
Publisher
BMJ
Published
2015-05-15
Volume
52
Issue
6
Pages
361-374
ISSN
  • 0022-2593 (ISSN-L)
  • 1468-6244
DOI
10.1136/jmedgenet-2015-103094
OpenAlex
W2103172754
Cited by
561
References
59
FWCI
42.10
Type
journal article
Language
en
Open access
hybrid

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van der Post, R. S., Vogelaar, I. P., Carneiro, F., Guilford, P., Huntsman, D., Hoogerbrugge, N., Caldas, C., Chelcun Schreiber, K. E., Hardwick, R. H., Ausems, M. G. E. M., Bardram, L., Benusiglio, P. R., Bisseling, T. M., Blair, V., Bleiker, E., Boussioutas, A., Cats, A., Coit, D., DeGregorio, L., . . . Fitzgerald, R. C. (2015). Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2015-103094

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.