Tumor predisposition syndrome

Definition:

Tumor predisposition syndrome (TPDS) is conferring an increased risk of hereditary, early-onset cancers; predominantly uveal melanoma, malignant mesothelioma, renal cell carcinoma, and BAP1-inactivated melanocytic tumor (BIMT). Germline mutations in the BAP1 gene cause this syndrome. BAP1 is a ubiquitin carboxy-terminal hydrolase that regulate a number of processes including DNA damage repair, cell cycle control, chromatin modification, and the immune response. Recently, it has been reported that germline MBD4 deficiency also causes TPDS. MBD4 encodes a glycosylase involved in base-excision repair.

References:

[1]. Bryan H Louie, et al. BAP1: Not just a BRCA1-associated protein. Cancer Treat Rev. 2020 Nov;90:102091. [Content Brief]

[2]. Claire Palles, et al. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. Am J Hum Genet. 2022 May 5;109(5):953-960. [Content Brief]

[3]. Mohamed H Abdel-Rahman, et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet. 2011 Dec;48(12):856-9. [Content Brief]

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