A family history of melanoma greatly increases the risk of developing cutaneous melanoma,
a highly aggressive skin cancer whose incidence has been steadily increasing worldwide …

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

BAP1 germline mutations predispose to a cancer predisposition syndrome that includes
mesothelioma, cutaneous melanoma, uveal melanoma and other cancers. This co …

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

Germline mutations in the major melanoma susceptibility gene CDKN2A explain genetic
predisposition in only 10–40% of melanoma‐prone families. In our study we …

Whole exome sequencing (WES) provides a powerful tool for medical genetic research.
Several dozens of WES studies involving patients with hereditary cancer syndromes have …

Malignant melanoma is a rare, often fatal form of skin cancer with a complex multigenic
etiology. The incidence of melanoma is increasing at an alarming rate. A number of heritable …

Background Multiple BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors
(BIMTs) have been associated with a familial cancer syndrome involving germline mutations …

Background BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors (BIMTs)
are often the earliest sign of the BAP1 tumor predisposition syndrome. Identification of BIMTs …

Abstract BRCA1-associated protein (BAP1)-inactivated melanocytic tumor (BIMT) is a group
of epithelioid melanocytic neoplasms characterized by the loss of function of BAP1, a tumor …