GI tract tumoursGene: SMAD4
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, 12:27 p.m. | Last Modified: 31 Jul 2019, 12:27 p.m.
Panel Version: 1.13
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on phenotypes: Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer. Variants also associated with Myhre syndrome, 139210 and Pancreatic cancer, somatic 260350
Created: 12 May 2017, 1:19 p.m.
Comment on list classification: Current diagnostic for juvenile polyposis which can present as bowel cancer.
Created: 7 Feb 2016, 9:33 p.m.
Source Expert List was added to SMAD4. Source NHS GMS was added to SMAD4. 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 SMAD4 were set to 16246179
Phenotypes for SMAD4 were set to Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
SMAD4 was added to GI tractpanel. Source: Radboud University Medical Center, Nijmegen SMAD4 was added to GI tractpanel. Source: UKGTN SMAD4 was added to GI tractpanel. Source: Eligibility statement prior genetic testing
SMAD4 was created by ellenmcdonagh
SMAD4 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green