GI tract tumoursGene: MSH2
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:26 p.m. | Last Modified: 31 Jul 2019, 12:26 p.m.
Panel Version: 1.13
Variants in this GENE are reported as part of current diagnostic practice
Comment on publications: 24362816
Created: 12 May 2017, 12:26 p.m.
Comment on list classification: Current diagnostic.
Created: 7 Feb 2016, 9:17 p.m.
Biallelic mutations cause Constitutional Mismatch Repair Disorder (CMMR-D)
Created: 8 Dec 2015, 2:22 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Source Expert List was added to MSH2. Source NHS GMS was added to MSH2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Publications for MSH2 were set to 24362816
Publications for MSH2 were set to Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115; doi:10.1038/ng.2854.
Phenotypes for MSH2 were set to Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR; Muir-Torre syndrome 158320 AD
MSH2 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green
MSH2 was created by ellenmcdonagh