Familial breast cancer
Gene: CHEK2EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 9 panels
4 reviews
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 be included on this panel for reporting.Created: 18 Jul 2017, 8:55 a.m.
Comment on list classification: New feedback from Clare Turnbull is that this gene should be included on the panel.Created: 30 May 2017, 9:49 a.m.
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: Intermediate penetrance, no clinical pathway, not currently suitable for diagnostic use.Created: 29 Jan 2016, 1:59 p.m.
Comment on list classification: Low penetrance variant, not currently suitable for diagnostic use.Created: 29 Jan 2016, 1:58 p.m.
Clare Turnbull (Queen Mary University London)
Intermediate penetrance for BC, RR 2. Not clinically actionableCreated: 2 Oct 2015, 10:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paul Pharoah (University of Cambridge)
The penetrance of LoF mutations not sufficiently high to be considered clinically relevant.Created: 28 Sep 2015, 5:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Li-Fraumeni syndrome, 609265
- Osteosarcoma, somatic, 259500
- {Breast cancer, susceptibility to}, 114480
- {Prostate cancer, familial, susceptibility to}, 176807
- {Breast and colorectal cancer, susceptibility to}
- Breast and Ovarian Cancer
- Breast Cancer
- OMIM
- 604373
- Clinvar variants
- Variants in CHEK2
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours for rare disease
- Familial breast cancer
- Inherited predisposition to acute myeloid leukaemia (AML)
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- GI tract tumours
- Familial prostate cancer
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
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 McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate 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 CHEK2 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).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene CHEK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)CHEK2 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)CHEK2 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)CHEK2 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen