Breast cancer pertinent cancer susceptibility
Gene: CDH1EnsemblGeneIds (GRCh38): ENSG00000039068
EnsemblGeneIds (GRCh37): ENSG00000039068
OMIM: 192090, Gene2Phenotype
CDH1 is in 10 panels
3 reviews
Dmitrijs Rots (Children's Clinical University Hospital)
Per Arina's review - if the gene is clearly well-known for the breast cancer, but just "problematic" for NHS - could it be marked as Amber ?Created: 9 Jan 2025, 11:19 a.m. | Last Modified: 9 Jan 2025, 11:19 a.m.
Panel Version: 2.12
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Updated rating from Red to Amber in line with review by Dmitrijs Rots - well established breast cancer gene but appropriate for breast cancer susceptibility panelCreated: 4 Aug 2025, 10:55 a.m. | Last Modified: 4 Aug 2025, 10:58 a.m.
Panel Version: 2.14
After NHS Genomic Medicine Service consideration, this gene has not been made Green and has been rated as Red. Additional comments from reviewing GLHs: 'There is a well established association of this gene withpredisposition to lobular breast cancer, but it presents huge problems when it is identified outside the context of a relevant family history. The UK Cancer genetics community do not want to add this gene to any general breast cancer susceptibility panels hence are extremely reluctant to test this gene outside of the already existing R215 criteria'Created: 2 May 2024, 1:54 p.m. | Last Modified: 2 May 2024, 1:54 p.m.
Panel Version: 2.9
Comment on list classification: New gene added to this panel by Lauma Freimane. 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.
Overall there is sufficient evidence to classify this as a breast cancer susceptibility gene. However, it should be noted that this gene is already covered by a targeted panel, R215 CDH1-related cancer syndrome. Will leave the decision with the GMS expert group as to whether this phenotype should also be covered by this panel.Created: 24 Jul 2023, 9:27 a.m. | Last Modified: 24 Jul 2023, 9:27 a.m.
Panel Version: 2.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lauma Freimane (Children's Clinical University Hospital)
Sources: LiteratureCreated: 18 May 2023, 12:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lobular breast cancer
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- 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
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cdh1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cdh1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cdh1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cdh1 has been classified as Red List (Low Evidence).
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: CDH1. Tag Q3_23_expert_review was removed from gene: CDH1.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CDH1 were set to 36436516
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDH1 were changed from Lobular breast cancer to Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: CDH1. Tag Q3_23_expert_review tag was added to gene: CDH1.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cdh1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauma Freimane (Children's Clinical University Hospital)gene: CDH1 was added gene: CDH1 was added to Breast cancer pertinent cancer susceptibility. Sources: Literature Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDH1 were set to 36436516 Phenotypes for gene: CDH1 were set to Lobular breast cancer Review for gene: CDH1 was set to GREEN