Familial breast cancer
Gene: ATMInclusion 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, 8:54 a.m.
Comment on list classification: New feedback from Clare Turnbull; this gene should now be green.Created: 30 May 2017, 9:50 a.m.
Comment when marking as ready: Not currently actionable in the NHS. Will need to keep this under review.Created: 29 Jan 2016, 2:15 p.m.
Comment on list classification: No clinical pathway at present. Could consider just adding V2424G once we can curate variants.Created: 29 Jan 2016, 2:12 p.m.
some evidence of higher penetrance for V2424G but not currently tested for in UK. To remain under review for green statusCreated: 2 Oct 2015, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model: incomplete penetrance dominant
LoF variants associated with lifetime risk of 20-30%
V2424G very rare and associated with risk>30%
Created: 1 Oct 2015, 2:45 p.m.
Mode of inheritance
Other
Phenotypes
breast cacner
Publications
Mode of pathogenicity
Other
Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900; Lymphoma, B-cell non-Hodgkin, somatic; {Breast cancer, susceptibility to}, 114480; Lymphoma, mantle cell; T-cell prolymphocytic leukemia, somatic; Breast and Ovarian Cancer to {Breast cancer, susceptibility to}, OMIM:114480
Publications for ATM were set to 19781682
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for ATM was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
ATM was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
ATM was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen