Familial breast cancer
Gene: CDH1EnsemblGeneIds (GRCh38): ENSG00000039068
EnsemblGeneIds (GRCh37): ENSG00000039068
OMIM: 192090, Gene2Phenotype
CDH1 is in 10 panels
6 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Rating Green as this is a well established breast cancer gene. Germline heterozygous variants have been found in diffuse gastric and lobular breast cancer syndrome. Patients may develop lobular breast cancer only or lobular breast cancer with gastric cancer. Lobular carcinoma of the breast has been reported in up to 60% of female carriers.Created: 4 Aug 2025, 10:58 a.m. | Last Modified: 4 Aug 2025, 10:58 a.m.
Panel Version: 1.25
Lauma Freimane (Children's Clinical University Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lobular breast cancer
Publications
Paul Pharoah (University of Cambridge)
Clare Turnbull (Queen Mary University London)
Little evidence for susceptibility to ductal BC. Potential for harm wrt prophylactic gastrectomyCreated: 7 Jul 2017, 1:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
lobular BC
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Inclusion of this gene on this panel was raised within the Inherited Cancer Predisposition GeCIP Domain group July 5th, and the conclusion was that this gene should not be included on this panel for reporting. Demoted to red.Created: 18 Jul 2017, 12:49 p.m.
Comment on list classification: After internal discussion, it was decided this gene should be green.Created: 29 Feb 2016, 4:59 p.m.
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: Not yet sufficient evidence for diagnostic use. Keep under review.Created: 29 Jan 2016, 2:25 p.m.
Comment on list classification: Possible association with predisposition to lobular breast cancer. At present insufficient evidence for diagnostic use.Created: 29 Jan 2016, 2:22 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215
- OMIM
- 192090
- Clinvar variants
- Variants in CDH1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDH1 were changed from Endometrial carcinoma, somatic, 608089; Ovarian carcinoma, somatic, 167000; {Breast cancer, lobular}, 114480; Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215; {Prostate cancer, susceptibility to}, 176807; High Risk Breast Cancer; Breast and Ovarian Cancer; lobular breast cancer to Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CDH1 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cdh1 has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CDH1 were set to Endometrial carcinoma, somatic, 608089; Ovarian carcinoma, somatic, 167000; {Breast cancer, lobular}, 114480; Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215; {Prostate cancer, susceptibility to}, 176807; High Risk Breast Cancer; Breast and Ovarian Cancer; lobular breast cancer
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for CDH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)CDH1 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)CDH1 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen