CDH1 germline mutations in families with hereditary lobular breast cancer.
Journal
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)
ISSN: 1473-5709
Titre abrégé: Eur J Cancer Prev
Pays: England
ID NLM: 9300837
Informations de publication
Date de publication:
01 05 2022
01 05 2022
Historique:
pubmed:
15
5
2021
medline:
8
4
2022
entrez:
14
5
2021
Statut:
ppublish
Résumé
Pathogenic CDH1 germline mutations are associated with lobular breast cancer in the so-called hereditary lobular breast cancer (HLBC) syndrome, without apparent correlation with the classic hereditary diffuse gastric cancer (HDGC). Recent international guidelines recommend CDH1 screening also in absence of diffuse gastric cancer (DGC) history. Genomic characteristics underlying gastric and breast tumorigenesis in this varied population of patients is still unclear. In this review we revised all CDH1 germline mutations described in literature associated with lobular breast cancer (LBC). We distinguish two subgroups of CDH1 mutant carriers: (a) 'mixed' HDGC syndrome, showing both DGC plus LBC and (b) HLBC, in which DGC is absent and the LBC phenotype is predominant. A higher frequency of CDH1 mutations was identified in the HLBC syndrome with an early age at LBC diagnosis; it is possible that LBCs with CDH1 germline mutations are an independent inherited syndrome. This evidence allows us to gain biological insight into the pathophysiological mechanisms responsible for the different phenotypes of the disease and potentially tailor the prophylactic and screening procedures.
Identifiants
pubmed: 33990097
doi: 10.1097/CEJ.0000000000000688
pii: 00008469-202205000-00008
doi:
Substances chimiques
Antigens, CD
0
CDH1 protein, human
0
Cadherins
0
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
274-278Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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