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 …

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

S Walpole, AL Pritchard, CM Cebulla… - JNCI: Journal of the …, 2018 - academic.oup.com
Background The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-
TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 …

Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survival

F Baumann, E Flores, A Napolitano, S Kanodia… - …, 2015 - academic.oup.com
Abstract BRCA1-associated protein-1 (BAP1) mutations cause a new cancer syndrome, with
a high rate of malignant mesothelioma (MM). Here, we tested the hypothesis that MM …

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 …

Genetics of familial melanoma: 20 years after CDKN2A

LG Aoude, KAW Wadt, AL Pritchard… - Pigment cell & …, 2015 - Wiley Online Library
Twenty years ago, the first familial melanoma susceptibility gene, CDKN 2A, was identified.
Two years later, another high‐penetrance gene, CDK 4, was found to be responsible for …

Genotypic and phenotypic features of BAP1 cancer syndrome: a report of 8 new families and review of cases in the literature

AM Haugh, CN Njauw, JA Bubley, AE Verzì… - JAMA …, 2017 - jamanetwork.com
Importance Patients with germline mutations inBAP1may develop several flesh-colored
melanocyticBAP1–mutated atypical intradermal tumors (MBAITs). These tumors generally …

BAP1 facilitates diagnostic objectivity, classification, and prognostication in malignant pleural mesothelioma

SM McGregor, R Dunning, E Hyjek, W Vigneswaran… - Human Pathology, 2015 - Elsevier
Summary BRCA-associated protein 1 (BAP1) has emerged as a promising biomarker for
malignant pleural mesothelioma (MPM). Loss of BAP1 expression can occur by a variety of …

[HTML][HTML] Clinical significance of histologic subtyping of malignant pleural mesothelioma

L Brcic, I Kern - Translational lung cancer research, 2020 - ncbi.nlm.nih.gov
Malignant mesothelioma (MM) is uncommon, but very aggressive tumor arising from the
mesothelial cells of pleura, pericardium, peritoneum, and tunica vaginalis. Despite …

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases

R Pilarski, CM Cebulla, JB Massengill… - Genes …, 2014 - Wiley Online Library
The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327)
includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC) …

CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma

M Betti, A Aspesi, A Biasi, E Casalone, D Ferrante… - Cancer letters, 2016 - Elsevier
BAP1 germline mutations predispose to a cancer predisposition syndrome that includes
mesothelioma, cutaneous melanoma, uveal melanoma and other cancers. This co …