Germline mutations in the E-cadherin gene (CDH1) confer a high lifetime risk of developing hereditary diffuse gastric cancer (HDGC) syndrome [
]. Classically, lobular breast cancer (LBC) has been described as a secondary “component” of this syndrome [
- Caldas C.
- Carneiro F.
- Lynch H.T.
- Yokota J.
- Wiesner G.L.
- Powell S.M.
- et al.
Familial gastric cancer: overview and guidelines for management.
J Med Genet. 1999; 36: 873-880
]. However, recent studies have demonstrated that LBC is associated with germline CDH1 mutations also in the absence of a family history of gastric cancer (GC). Some of these germline mutations have been identified for the first time in LBC cases, others were previously reported in individuals diagnosed with GC [
- Keller G.
- Vogelsang H.
- Becker I.
- Hutter J.
- Ott K.
- Candidus S.
- et al.
Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation.
Am J Pathol. 1999; 155: 337-342
- Benusiglio P.R.
- Malka D.
- Rouleau E.
- De Pauw A.
- Buecher B.
- Noguès C.
- et al.
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
J Med Genet. 2013; 50: 486-489
- Petridis C.
- Shinomiya I.
- Kohut K.
- Gorman P.
- Caneppele M.
- Shah V.
- et al.
Germline CDH1 mutations in bilateral lobular carcinoma in situ.
Br J Canc. 2014; 110: 1053-1057
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- Familial gastric cancer: overview and guidelines for management.J Med Genet. 1999; 36: 873-880
- Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation.Am J Pathol. 1999; 155: 337-342
- CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.J Med Genet. 2013; 50: 486-489
- Germline CDH1 mutations in bilateral lobular carcinoma in situ.Br J Canc. 2014; 110: 1053-1057
- E-cadherin germline mutation carriers: clinical management and genetic implications.Cancer Metastasis Rev. 2014; 33: 1081-1094
- Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.J Med Genet. 2018; 55: 431-441
- Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.J Med Genet. 2015; 52: 361-374
- CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.Arch Gynecol Obstet. 2018; 297: 147-152
- Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.Mol Genet Genomic Med. 2016; 4: 232-236
Published online: July 19, 2019
Accepted: July 16, 2019
Received in revised form: July 8, 2019
Received: June 17, 2019
© 2019 Elsevier Ltd, BASO ~ The Association for Cancer Surgery, and the European Society of Surgical Oncology. All rights reserved.