GI tract tumours
Gene: APCAs 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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P for Adenomatous polyposis coli 175100 and Desmoid disease, hereditary 135290. Numerous variants reported in Adenomatous polyposis coli 175100 and at least 5 variants reported in Desmoid disease, hereditary 135290. However, none of the phenotypes associated with APC include the hamartomatous polyps characteristic of Peutz-Jeghers syndrome.Created: 11 Apr 2017, 2:40 p.m.
Comment on phenotypes: Also associated with Adenoma, periampullary, somatic; Colorectal cancer, somatic 114500; Gastric cancer, somatic 613659; Hepatoblastoma, somatic 114550Created: 11 Apr 2017, 2:36 p.m.
Comment on phenotypes: Increased risk of colorectal cancerCreated: 11 Apr 2017, 2:30 p.m.
Comment on list classification: Well established current diagnostic gene.Created: 7 Feb 2016, 9:13 p.m.
Only protein-truncating variants pathogenicCreated: 8 Dec 2015, 3:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Mutations listed and interpreted by the International Society for Gastrointestinal Hereditary Cancer at http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=APC , as recognised by GA4GHCreated: 8 Dec 2015, 2:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colorectal adenomas; Colorectal Carcinoma
Source Expert List was added to APC. Source NHS GMS was added to APC. 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 APC were set to Adenomatous polyposis coli 175100; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Desmoid disease, hereditary 135290
APC was added to GI tractpanel. Source: Illumina TruGenome Clinical Sequencing Services APC was added to GI tractpanel. Source: UKGTN
APC was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green
APC was created by ellenmcdonagh