Childhood solid tumours
Gene: BAP1Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma.
Onset is typically in adulthood but following specialist review, it was agreed that it is appropriate to include the BAP1 gene on this panel. Rare paediatric cases are reported, as reviewed by Terri McVeigh (The Royal Marsden NHS).Created: 9 Jan 2024, 11:48 a.m. | Last Modified: 9 Jan 2024, 11:50 a.m.
Panel Version: 4.12
Discussed at UKCGG/cancer leads meeting 06/07/2023 - agreed reasonable to include on panel
Sources: Expert ReviewCreated: 20 Dec 2023, 8:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
uveal melanoma; mesothelioma; cholangiocarcioma; cutaneous melanoma; renal cell carcinoma; meningioma
Publications
Gene: bap1 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: BAP1. Tag Q4_23_NHS_review tag was added to gene: BAP1.
Phenotypes for gene: BAP1 were changed from uveal melanoma; mesothelioma; cholangiocarcioma; cutaneous melanoma; renal cell carcinoma; meningioma to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661
gene: BAP1 was added gene: BAP1 was added to Childhood solid tumours. Sources: Expert Review Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAP1 were set to 23552620; 30517737; 31382694; https://doi.org/10.1016/j.ejcped.2023.100023; 29981911 Phenotypes for gene: BAP1 were set to uveal melanoma; mesothelioma; cholangiocarcioma; cutaneous melanoma; renal cell carcinoma; meningioma Penetrance for gene: BAP1 were set to Incomplete Review for gene: BAP1 was set to GREEN