CDH1-Associated Breast Carcinoma Syndrome

MedGen UID:: 1779168
•Concept ID:: C5447335
•: Neoplastic Process

Synonyms:

CDH1-Associated Breast Cancer Syndrome; Hereditary Lobular Breast Cancer Syndrome; Hereditary Lobular Breast Carcinoma Syndrome

Definition

A cancer susceptibility syndrome caused by inactivating germline mutations of the CDH1 gene. It is associated with the development of lobular carcinoma of the breast. Females with mutation of the CDH1 gene have a 40% risk of developing lobular breast carcinoma. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCDH1-Associated Breast Carcinoma Syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Hereditary cancer-predisposing syndrome
        CDH1-Associated Breast Carcinoma Syndrome

Recent clinical studies

Etiology

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, Guilford P, Paredes J, Seruca R
J Med Genet 2019 Apr;56(4):199-208. Epub 2019 Jan 19 doi: 10.1136/jmedgenet-2018-105807. PMID: 30661051 Free PMC Article

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Clinical prediction guides

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

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Recent systematic reviews

Cancer predisposition and germline CTNNA1 variants.

Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, Hüneburg R, Aretz S, Colas C, Oliveira C
Eur J Med Genet 2021 Oct;64(10):104316. Epub 2021 Aug 21 doi: 10.1016/j.ejmg.2021.104316. PMID: 34425242

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CDH1-Associated Breast Carcinoma Syndrome

Definition

Term Hierarchy

Recent clinical studies

Etiology

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

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