Childhood solid tumours
Gene: CDKN2AComment on list classification: Well-established tumour suppressor gene associated with a variety of tumours, including cutaneous melanoma, pancreatic cancer and tumours of the nervous system such as astrocytomas.
Onset is typically in adulthood but following specialist review, it was agreed that it is appropriate to include the CDKN2A gene on this panel. Rare paediatric cases are reported, as reviewed by Terri McVeigh (The Royal Marsden NHS).Created: 9 Jan 2024, 2:21 p.m. | Last Modified: 9 Jan 2024, 2:21 p.m.
Panel Version: 4.14
Discussed at UKCGG/cancer leads meeting 06/07/2023 - agreed reasonable to include on panel
Sources: Expert Review, LiteratureCreated: 20 Dec 2023, 9:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cutaneous melanoma; pancreatic cancer; astrocytomas
Publications
Gene: cdkn2a has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: CDKN2A. Tag Q4_23_NHS_review tag was added to gene: CDKN2A.
Phenotypes for gene: CDKN2A were changed from cutaneous melanoma; pancreatic cancer; astrocytomas to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719
gene: CDKN2A was added gene: CDKN2A was added to Childhood solid tumours. Sources: Expert Review,Literature Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN2A were set to 24451801; 30207590 Phenotypes for gene: CDKN2A were set to cutaneous melanoma; pancreatic cancer; astrocytomas Penetrance for gene: CDKN2A were set to Incomplete Review for gene: CDKN2A was set to GREEN