GI tract tumoursGene: PTEN
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
Comment on phenotypes: Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Bowel polyps found in majority of patients with PTEN-related disorders
Created: 12 May 2017, 1:14 p.m.
Comment on list classification: DW CT - relevant in colon cancer.
Created: 10 May 2016, 8:21 p.m.
Good evidence of a modest predisposition to colorectal cancer
Created: 8 Dec 2015, 2:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Colorectal cancer; hamartomatous polyp; ganglioneuroma
Source Expert List was added to PTEN. Source NHS GMS was added to PTEN. 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
Phenotypes for PTEN were set to PTEN hamartoma tumor syndrome; Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350
Publications for PTEN were set to 20301661
PTEN was added to GI tractpanel. Source: Expert Review
PTEN was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green
PTEN was created by ellenmcdonagh