Familial breast cancer

Gene: CHEK2

Green List (high evidence)

CHEK2 (checkpoint kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 7 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)

Red List (low evidence)

Intermediate penetrance for BC, RR 2. Not clinically actionable
Created: 2 Oct 2015, 10:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Paul Pharoah (University of Cambridge)

Red List (low evidence)

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

History Filter Activity

18 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate 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 CHEK2 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: 3

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene CHEK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

CHEK2 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CHEK2 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CHEK2 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen