TY - JOUR
T1 - Hereditary diffuse gastric cancer
T2 - updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
AU - van der Post, Rachel S.
AU - Vogelaar, Ingrid P.
AU - Carneiro, Fatima
AU - Guilford, Parry
AU - Huntsman, David
AU - Hoogerbrugge, Nicoline
AU - Caldas, Carlos
AU - Schreiber, Karen E. Chelcun
AU - Hardwick, Richard H.
AU - Ausems, Margreet G. E. M.
AU - Bardram, Linda
AU - Benusiglio, Patrick R.
AU - Bisseling, Tanya M.
AU - Blair, Vanessa
AU - Bleiker, Eveline
AU - Boussioutas, Alex
AU - Cats, Annemieke
AU - Coit, Daniel
AU - DeGregorio, Lynn
AU - Figueiredo, Joana
AU - Ford, James M.
AU - Heijkoop, Esther
AU - Hermens, Rosella
AU - Humar, Bostjan
AU - Kaurah, Pardeep
AU - Keller, Gisella
AU - Lai, Jennifer
AU - Ligtenberg, Marjolijn J. L.
AU - O'Donovan, Maria
AU - Oliveira, Carla
AU - Pinheiro, Hugo
AU - Ragunath, Krish
AU - Rasenberg, Esther
AU - Richardson, Susan
AU - Roviello, Franco
AU - Schackert, Hans
AU - Seruca, Raquel
AU - Taylor, Amy
AU - ter Huurne, Anouk
AU - Tischkowitz, Marc
AU - Joe, Sheena Tjon A.
AU - van Dijck, Benjamin
AU - van Grieken, Nicole C. T.
AU - van Hillegersberg, Richard
AU - van Sandick, Johanna W.
AU - Vehof, Rianne
AU - van Krieken, J. Han
AU - Fitzgerald, Rebecca C.
PY - 2015/6
Y1 - 2015/6
N2 - 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.
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.
KW - PROPHYLACTIC TOTAL GASTRECTOMY
KW - E-CADHERIN GENE
KW - PEUTZ-JEGHERS-SYNDROME
KW - FAMILIAL ADENOMATOUS POLYPOSIS
KW - LOBULAR BREAST-CARCINOMA
KW - RING CELL-CARCINOMA
KW - ENDOSCOPIC SURVEILLANCE
KW - PROSPECTIVE-COHORT
KW - COLORECTAL-CANCER
KW - METASTATIC BREAST
U2 - 10.1136/jmedgenet-2015-103094
DO - 10.1136/jmedgenet-2015-103094
M3 - Literature review
C2 - 25979631
SN - 0022-2593
VL - 52
SP - 361
EP - 374
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 6
ER -