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| Childhood solid tumours v4.12 | BAP1 |
Arina Puzriakova changed review comment from: Comment 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).; to: Comment 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). |
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| Childhood solid tumours v4.12 | BAP1 |
Arina Puzriakova changed review comment from: Comment 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, as reviewed by Terri McVeigh (The Royal Marsden NHS).; to: Comment 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). |
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| Childhood solid tumours v4.12 | BAP1 | Arina Puzriakova Classified gene: BAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.12 | BAP1 |
Arina Puzriakova Added comment: Comment 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, as reviewed by Terri McVeigh (The Royal Marsden NHS). |
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| Childhood solid tumours v4.12 | BAP1 | Arina Puzriakova Gene: bap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.11 | BAP1 |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: BAP1. Tag Q4_23_NHS_review tag was added to gene: BAP1. |
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| Childhood solid tumours v4.11 | BAP1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.9 | BAP1 |
Terri McVeigh 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 Added comment: Discussed at UKCGG/cancer leads meeting 06/07/2023 - agreed reasonable to include on panel Sources: Expert Review |
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