Among more than 200 BAP1-mutant families affected by the “BAP1 cancer syndrome,”
nearly all individuals inheriting a BAP1 mutant allele developed one or more malignancies …

BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for
a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical …

Importance Patients with germline mutations inBAP1may develop several flesh-colored
melanocyticBAP1–mutated atypical intradermal tumors (MBAITs). These tumors generally …

Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2-to 3-fold. In
addition, approximately 10% of melanomas are caused by inherited germline mutations that …

Metastatic melanoma is one of the most aggressive tumors, with frequent mutations affecting
components of the MAPK pathway, mainly protein kinase BRAF. Despite promising initial …

Germline pathogenic variants in the BRCA1-associated protein-1 (BAP1) gene cause the
BAP1-tumor predisposition syndrome (BAP1-TPDS, OMIM 614327). BAP1-TPDS is …

Cutaneous melanoma arises from melanocytes following genetic, epigenetic and
allogenetic (ie other than epi/genetic) modifications. An estimated 10% of cutaneous …

Although discussed using variable terminology, cutaneous BRCA1‐associated protein
(BAP1)‐inactivated melanocytic tumor (BIMT) has been considered a discrete diagnostic …

Cancer is widely regarded to be a genetic disease. Indeed, over the past five decades, the
genomic perspective on cancer has come to almost completely dominate the field. However …

Abstract The germline BAP1 (BRCA1-associated protein-1) mutation and associated cancer
pre-disposition syndrome was first described in 2011. Since then, physicians have …