GI tract tumours

Gene: APC

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

Green List (high evidence)

Publications

• 29661970

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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 114550

Created: 11 Apr 2017, 2:36 p.m.

Comment on phenotypes: Increased risk of colorectal cancer

Created: 11 Apr 2017, 2:30 p.m.

Comment on list classification: Well established current diagnostic gene.

Created: 7 Feb 2016, 9:13 p.m.

Green List (high evidence)

Only protein-truncating variants pathogenic

Created: 8 Dec 2015, 3:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Green List (high evidence)

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 GA4GH

Created: 8 Dec 2015, 2:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal adenomas; Colorectal Carcinoma