Familial breast cancer
Gene: CHEK2Comment 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.
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.
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
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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for CHEK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene CHEK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CHEK2 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services
CHEK2 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
CHEK2 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen