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 …

[HTML][HTML] Lung cancer is also a hereditary disease

PR Benusiglio, V Fallet, M Sanchis-Borja… - European …, 2021 - Eur Respiratory Soc
Pathogenic genetic variants (formerly called mutations) present in the germline of some
individuals are associated with a clinically relevant increased risk of developing lung cancer …

[HTML][HTML] High incidence of somatic BAP1 alterations in sporadic malignant mesothelioma

M Nasu, M Emi, S Pastorino, M Tanji, A Powers… - Journal of Thoracic …, 2015 - Elsevier
Background Breast cancer 1-associated protein 1 (BAP1) is a nuclear deubiquitinase that
regulates gene expression, transcription, DNA repair, and more. Several findings …

[HTML][HTML] Update in genetic susceptibility in melanoma

M Potrony, C Badenas, P Aguilera… - Annals of …, 2015 - ncbi.nlm.nih.gov
Melanoma is the most deadly of the common skin cancers and its incidence is rapidly
increasing. Approximately 10% of cases occur in a familial context. To date, cyclin …

Melanoma genetics

J Read, KAW Wadt, NK Hayward - Journal of medical genetics, 2016 - jmg.bmj.com
Approximately 10% of melanoma cases report a relative affected with melanoma, and a
positive family history is associated with an increased risk of developing melanoma …

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 …

A Subset of Mesotheliomas With Improved Survival Occurring in Carriers of BAP1 and Other Germline Mutations

S Pastorino, Y Yoshikawa, HI Pass, M Emi… - Journal of Clinical …, 2018 - ascopubs.org
Purpose We hypothesized that four criteria could help identify malignant mesotheliomas
(MMs) most likely linked to germline mutations of BAP1 or of other genes: family history of …

Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy

R Hassan, B Morrow, A Thomas… - Proceedings of the …, 2019 - National Acad Sciences
Survival from malignant mesothelioma, particularly pleural mesothelioma, is very poor. For
patients with breast, ovarian, or prostate cancers, overall survival is associated with …

BAP1 as a guardian of genome stability: implications in human cancer

J Kwon, D Lee, SA Lee - Experimental & Molecular Medicine, 2023 - nature.com
BAP1 is a ubiquitin C-terminal hydrolase domain-containing deubiquitinase with a wide
array of biological activities. Studies in which advanced sequencing technologies were used …