TY - JOUR
T1 - CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome
T2 - A multicentre study
AU - Benusiglio, Patrick R.
AU - Malka, David
AU - Rouleau, Etienne
AU - Pauw, Antoine De
AU - Buecher, Bruno
AU - Noguès, Catherine
AU - Fourme, Emmanuelle
AU - Colas, Chrystelle
AU - Coulet, Florence
AU - Warcoin, Mathilde
AU - Grandjouan, Sophie
AU - Sezeur, Alain
AU - Laurent-Puig, Pierre
AU - Molière, Diane
AU - Tlemsani, Camille
AU - Maria, Marina Di
AU - Byrde, Veronique
AU - Delaloge, Suzette
AU - Blayau, Martine
AU - Caron, Olivier
PY - 2013/7/29
Y1 - 2013/7/29
N2 - Introduction: CDH1 predisposes primarily to diffuse gastric cancer (DGC). Multiple DGC cases in a family, DGC at a young age in an individual or the combination of DGC andlobular breast cancer (LBC) in an individual or a family define the hereditary DGC syndrome (HDGC), and testing for germline CDH1 mutations is warranted in HDGC. Methods and results: We report all index cases from Ile-de-France in which a germline CDH1 mutation has been identified. Out of 18 cases, 7 do not fulfil the HDGC-defining criteria. Three of them are women who presented initially with bilateral LBC below age 50, without personal or family history of DGC, and who subsequently developed symptomatic DGC. Discussion: Our series of CDH1 mutation carriers is the largest to date and demonstrates that LBC might be the first manifestation of HDGC. A personal or family history of multiple LBCs at a young age, even without DGC, should prompt CDH1 mutation screening. It is paramount to identify mutation carriers early, so that they can benefit from prophylactic gastrectomy before they develop symptomatic, highly lethal DGC. We recommend a revision of the HDGC-defining criteria and propose for consideration the name 'Hereditary Diffuse Gastric and Lobular Breast Cancer' instead of HDGC.
AB - Introduction: CDH1 predisposes primarily to diffuse gastric cancer (DGC). Multiple DGC cases in a family, DGC at a young age in an individual or the combination of DGC andlobular breast cancer (LBC) in an individual or a family define the hereditary DGC syndrome (HDGC), and testing for germline CDH1 mutations is warranted in HDGC. Methods and results: We report all index cases from Ile-de-France in which a germline CDH1 mutation has been identified. Out of 18 cases, 7 do not fulfil the HDGC-defining criteria. Three of them are women who presented initially with bilateral LBC below age 50, without personal or family history of DGC, and who subsequently developed symptomatic DGC. Discussion: Our series of CDH1 mutation carriers is the largest to date and demonstrates that LBC might be the first manifestation of HDGC. A personal or family history of multiple LBCs at a young age, even without DGC, should prompt CDH1 mutation screening. It is paramount to identify mutation carriers early, so that they can benefit from prophylactic gastrectomy before they develop symptomatic, highly lethal DGC. We recommend a revision of the HDGC-defining criteria and propose for consideration the name 'Hereditary Diffuse Gastric and Lobular Breast Cancer' instead of HDGC.
UR - http://www.scopus.com/inward/record.url?scp=84883145354&partnerID=8YFLogxK
U2 - 10.1136/jmedgenet-2012-101472
DO - 10.1136/jmedgenet-2012-101472
M3 - Article
AN - SCOPUS:84883145354
SN - 0022-2593
VL - 50
SP - 486
EP - 489
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 7
ER -