Familial breast cancer

Gene: CDH1

Red List (low evidence)

CDH1 (cadherin 1)
EnsemblGeneIds (GRCh38): ENSG00000039068
EnsemblGeneIds (GRCh37): ENSG00000039068
OMIM: 192090, Gene2Phenotype
CDH1 is in 9 panels

4 reviews

Paul Pharoah (University of Cambridge)

Green List (high evidence)

Clare Turnbull (Queen Mary University London)

Red List (low evidence)

Little evidence for susceptibility to ductal BC. Potential for harm wrt prophylactic gastrectomy
Created: 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 Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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
OMIM
192090
Clinvar variants
Variants in CDH1
Penetrance
Complete
Panels with this gene

History Filter Activity

18 Jul 2017, Gel status: 1

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

18 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for CDH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CDH1 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CDH1 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen