Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
| Autor: | Marc Tischkowitz, Sheena Tjon A Joe, Lynn DeGregorio, Bostjan Humar, Rachel S. van der Post, Carlos Caldas, Rosella P.M.G. Hermens, Tanya M. Bisseling, Patrick R. Benusiglio, Eveline M. A. Bleiker, Maria O'Donovan, Parry Guilford, J. Han van Krieken, Rianne Vehof, Annemieke Cats, Benjamin van Dijck, Krish Ragunath, Jennifer Lai, Franco Roviello, David G. Huntsman, Karen E Chelcun Schreiber, James M. Ford, Joana Figueiredo, Fátima Carneiro, Vanessa Blair, Margreet G. E. M. Ausems, Amy E Taylor, Linda Bardram, Nicoline Hoogerbrugge, G. Keller, Alex Boussioutas, Richard van Hillegersberg, Anouk ter Huurne, Pardeep Kaurah, Raquel Seruca, Nicole C.T. van Grieken, Esther Rasenberg, Ingrid P. Vogelaar, Hugo Pinheiro, Rebecca C. Fitzgerald, Marjolijn J. L. Ligtenberg, Carla Oliveira, Hans K. Schackert, Daniel G. Coit, Johanna W. van Sandick, Richard H. Hardwick, Esther Heijkoop, Susan Richardson |
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| Přispěvatelé: | Pinheiro, Hugo [0000-0001-5329-8224], Apollo - University of Cambridge Repository, Pathology, CCA - Innovative therapy |
| Rok vydání: | 2015 |
| Předmět: |
Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]
DNA Mutational Analysis Review COLORECTAL-CANCER ENDOSCOPIC SURVEILLANCE Pregnancy FAMILIAL ADENOMATOUS POLYPOSIS Signet ring cell carcinoma Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] Non-U.S. Gov't Diagnostics Early Detection of Cancer Genetics (clinical) medicine.diagnostic_test METASTATIC BREAST Research Support Non-U.S. Gov't Cadherins Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ddc Population Surveillance Practice Guidelines as Topic Female Hereditary diffuse gastric cancer Colorectal Neoplasms medicine.medical_specialty Heterozygote Stomach and duodenum E-CADHERIN GENE Genetic counseling Breast Neoplasms Genetic Counseling Research Support PROSPECTIVE-COHORT LOBULAR BREAST-CARCINOMA Familial adenomatous polyposis PROPHYLACTIC TOTAL GASTRECTOMY Germline mutation Breast cancer Antigens CD Stomach Neoplasms Internal medicine medicine Journal Article Genetics Humans Genetic Testing Clinical genetics Germ-Line Mutation Genetic testing RING CELL-CARCINOMA business.industry Cancer: breast Cancer medicine.disease Cancer: gastric PEUTZ-JEGHERS-SYNDROME business |
| Zdroj: | van der Post, R S, Vogelaar, I P, Carneiro, F, Guilford, P, Huntsman, D, Hoogerbrugge, N, Caldas, C, Schreiber, K E C, 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, Sandick, J W, Vehof, R, van Krieken, J H & Fitzgerald, R C 2015, ' Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers ', Journal of Medical Genetics, vol. 52, no. 6, pp. 361-374 . https://doi.org/10.1136/jmedgenet-2015-103094 Journal of Medical Genetics, 52(6), 361. BMJ Publishing Group Journal of Medical Genetics, 52, 6, pp. 361-374 Journal of Medical Genetics Journal of Medical Genetics, 52, 361-374 Journal of Medical Genetics, 52(6), 361-374. BMJ Publishing Group |
| ISSN: | 0022-2593 |
| DOI: | 10.1136/jmedgenet-2015-103094 |
| Popis: | Contains fulltext : 152968.pdf (Publisher’s version ) (Open Access) 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. 14 p. |
| Databáze: | OpenAIRE |
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