Literature DB >> 27235536

Gene of the month: BAP1.

Ami Wang1, Anjali Papneja2, Martin Hyrcza1, Ayman Al-Habeeb1, Danny Ghazarian1.   

Abstract

The BAP1 gene (BRCA1-associated protein 1) is a tumour suppressor gene that encodes a deubiquitinating enzyme (DUB), regulating key cellular pathways, including cell cycle, cellular differentiation, transcription and DNA damage response. Germline BAP1 mutations cause a novel cancer syndrome characterised by early onset of multiple atypical Spitz tumours and increased risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma and various other malignancies. Recognising the clinicopathological features of specific BAP1-deficient tumours is crucial for early screening/tumour detection, with significant impact on patient outcome. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Entities:  

Keywords:  CANCER GENETICS; MELANOMA; RENAL CANCER

Mesh:

Substances:

Year:  2016        PMID: 27235536     DOI: 10.1136/jclinpath-2016-203866

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN: 0021-9746            Impact factor:   3.411


  34 in total

1.  Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations.

Authors:  Valeria Maffeis; Rocco Cappellesso; Lorenzo Nicolè; Vincenza Guzzardo; Chiara Menin; Lisa Elefanti; Francesca Schiavi; Maria Guido; Ambrogio Fassina
Journal:  Endocr Pathol       Date:  2019-12       Impact factor: 3.943

2.  Clinical Benefit of Niraparib to TKI/mTORi-Resistance Metastatic ccRCC With BAP1-Frame Shift Mutation: Case Report and Literature Review.

Authors:  Bi-Jun Lian; Ke Zhang; Xu-Dong Fang; Feng Li; Zhao Dai; Wei-Ying Chen; Xiao-Ping Qi
Journal:  Front Oncol       Date:  2022-07-06       Impact factor: 5.738

Review 3.  PBRM1, SETD2 and BAP1 - the trinity of 3p in clear cell renal cell carcinoma.

Authors:  Joseph Walton; Keith Lawson; Panagiotis Prinos; Antonio Finelli; Cheryl Arrowsmith; Laurie Ailles
Journal:  Nat Rev Urol       Date:  2022-10-17       Impact factor: 16.430

Review 4.  BAP1: Not just a BRCA1-associated protein.

Authors:  Bryan H Louie; Razelle Kurzrock
Journal:  Cancer Treat Rev       Date:  2020-08-20       Impact factor: 12.111

5.  Post-thoracotomy neuralgic amyotrophy in a patient with BAP1 tumor predisposition syndrome: Multimodality longitudinal follow-up.

Authors:  Noushin Jazebi; Nigar Dargah-Zada; Katharine Alter; Ritu Shah; Cheryl L Warga; Colleen D Bond; David S Schrump; Tanya Lehky
Journal:  Muscle Nerve       Date:  2021-06-09       Impact factor: 3.852

6.  Pyruvate dehydrogenase inactivation causes glycolytic phenotype in BAP1 mutant uveal melanoma.

Authors:  Anna Han; Vivian Chua; Usman Baqai; Timothy J Purwin; Nelisa Bechtel; Emily Hunter; Manoela Tiago; Erin Seifert; David W Speicher; Zachary T Schug; J William Harbour; Andrew E Aplin
Journal:  Oncogene       Date:  2022-01-20       Impact factor: 8.756

7.  BAP1 dependent expression of long non-coding RNA NEAT-1 contributes to sensitivity to gemcitabine in cholangiocarcinoma.

Authors:  Mansi Parasramka; Irene K Yan; Xue Wang; Phuong Nguyen; Akiko Matsuda; Sayantan Maji; Catherine Foye; Yan Asmann; Tushar Patel
Journal:  Mol Cancer       Date:  2017-01-25       Impact factor: 27.401

8.  Familial Associations of Colorectal Cancer with Other Cancers.

Authors:  Hongyao Yu; Akseli Hemminki; Kristina Sundquist; Kari Hemminki
Journal:  Sci Rep       Date:  2017-07-12       Impact factor: 4.379

9.  BAP1 mutant uveal melanoma is stratified by metabolic phenotypes with distinct vulnerability to metabolic inhibitors.

Authors:  Anna Han; Timothy J Purwin; Nelisa Bechtel; Connie Liao; Vivian Chua; Erin Seifert; Takami Sato; Zachary T Schug; David W Speicher; J William Harbour; Andrew E Aplin
Journal:  Oncogene       Date:  2020-11-18       Impact factor: 9.867

10.  Second Primary Cancers After Kidney Cancers, and Kidney Cancers as Second Primary Cancers.

Authors:  Guoqiao Zheng; Kristina Sundquist; Jan Sundquist; Tianhui Chen; Asta Försti; Otto Hemminki; Kari Hemminki
Journal:  Eur Urol Open Sci       Date:  2021-01-09
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