Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer

M Carbone, JW Harbour, J Brugarolas, A Bononi… - Cancer discovery, 2020 - AACR
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 …

Uveal melanoma: relatively rare but deadly cancer

S Kaliki, CL Shields - Eye, 2017 - nature.com
Although it is a relatively rare disease, primarily found in the Caucasian population, uveal
melanoma is the most common primary intraocular tumor in adults with a mean age …

Uveal melanoma

MJ Jager, CL Shields, CM Cebulla… - Nature reviews Disease …, 2020 - nature.com
Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. UMs
are usually initiated by a mutation in GNAQ or GNA11, unlike cutaneous melanomas, which …

Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases

K Rai, R Pilarski, CM Cebulla… - Clinical …, 2016 - Wiley Online Library
The BRCA1‐associated protein‐1 (BAP1) tumor predisposition syndrome (BAP1‐TPDS) is a
recently identified hereditary cancer syndrome. Germline mutations in this tumor suppressor …

[HTML][HTML] BAP1 tumor predisposition syndrome

R Pilarski, MI Carlo, C Cebulla, M Abdel-Rahman - 2022 - europepmc.org
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 …

The role of immune checkpoint blockade in uveal melanoma

A Wessely, T Steeb, M Erdmann, L Heinzerling… - International journal of …, 2020 - mdpi.com
Uveal melanoma (UM) represents the most common intraocular malignancy in adults and
accounts for about 5% of all melanomas. Primary disease can be effectively controlled by …

Familial melanoma and susceptibility genes: a review of the most common clinical and dermoscopic phenotypic aspect, associated malignancies and practical tips for …

L Zocchi, A Lontano, M Merli, E Dika, E Nagore… - Journal of clinical …, 2021 - mdpi.com
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 …

The genetics of uveal melanoma: current insights

H Helgadottir, V Höiom - The application of clinical genetics, 2016 - Taylor & Francis
Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting~ 7,000
individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and …

[HTML][HTML] Overview of BAP1 cancer predisposition syndrome and the relationship to uveal melanoma

B Masoomian, JA Shields, CL Shields - Journal of current ophthalmology, 2018 - Elsevier
Purpose The aim of this study was to review the genetics, epidemiology, clinical findings,
and management of BRCA1-associated protein-1 (BAP1) cancer predisposition syndrome …

Genetic prognostication in uveal melanoma

M Dogrusöz, MJ Jager - Acta ophthalmologica, 2018 - Wiley Online Library
Uveal melanoma (UM) is a rare tumour with a high propensity to metastasize. Although no
effective treatment for metastases yet exists, prognostication in UM is relevant for patient …