Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer.

Cancer Discovery
Michele CarboneGiovanni Gaudino

Abstract

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 during their lifetime, mostly uveal and cutaneous melanoma, mesothelioma, and clear-cell renal cell carcinoma. These cancer types are also those that, when they occur sporadically, are more likely to carry somatic biallelic BAP1 mutations. Mechanistic studies revealed that the tumor suppressor function of BAP1 is linked to its dual activity in the nucleus, where it is implicated in a variety of processes including DNA repair and transcription, and in the cytoplasm, where it regulates cell death and mitochondrial metabolism. BAP1 activity in tumor suppression is cell type- and context-dependent. BAP1 has emerged as a critical tumor suppressor across multiple cancer types, predisposing to tumor development when mutated in the germline as well as somatically. Moreover, BAP1 has emerged as a key regulator of gene-environment interaction.This article is highlighted in the In This Issue feature, p. 1079.

References

Aug 4, 2004·Cancer Research·Michele CarboneMay Wong
Jan 26, 2007·Nature Reviews. Cancer·Michele CarboneY Izzettin Baris
Jan 2, 2009·Cancer Research·Hiroyuki NishikawaTomohiko Ohta
Jun 27, 2009·Journal of Medical Genetics·K D GonzalezS S Sommer
Oct 10, 2009·The Journal of Biological Chemistry·Yuichi J MachidaAnindya Dutta
Nov 6, 2010·Science·J William HarbourAnne M Bowcock
Jul 23, 2011·Genes & Cancer·David Malkin
Jul 27, 2011·Proceedings of the National Academy of Sciences of the United States of America·Michele CarboneAubrey Miller
Aug 30, 2011·Nature Genetics·Joseph R TestaMichele Carbone
Aug 30, 2011·Nature Genetics·Thomas WiesnerMichael R Speicher
Sep 24, 2011·Journal of Medical Genetics·Mohamed H Abdel-RahmanFrederick H Davidorf
Nov 1, 2011·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Solange LandrevilleJ William Harbour
Nov 8, 2011·Haematologica·Marta PratcoronaPeter J M Valk
Jun 12, 2012·Nature Genetics·Samuel Peña-LlopisJames Brugarolas
Aug 15, 2012·Pigment Cell & Melanoma Research·Karin WadtKevin M Brown
Sep 1, 2012·Journal of Translational Medicine·Michele CarboneHaining Yang
Oct 4, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Thomas WiesnerMichael R Speicher
Jan 11, 2013·Journal of Cellular and Molecular Medicine·Giulia PintonLaura Moro
Feb 19, 2013·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·G H HolomH N Vintertun
Apr 4, 2013·Nature Reviews. Cancer·Michele CarboneGiovanni Gaudino
Apr 16, 2013·Annals of Oncology : Official Journal of the European Society for Medical Oncology·C RibeiroB Parente
May 21, 2013·American Journal of Human Genetics·Tatiana PopovaMarc-Henri Stern
May 28, 2013·Molecular Cancer Research : MCR·Megan N FarleyJames Brugarolas
Jun 4, 2013·The Lancet Oncology·Francine BaumannMichele Carbone
Jul 9, 2013·Cancer Research·Samuel Peña-LlopisJames Brugarolas
Aug 7, 2013·BMC Cancer·Katie A MatatallJ William Harbour
Aug 22, 2013·Pathology Oncology Research : POR·Lisa ArztHelmut H Popper
Aug 27, 2013·PloS One·Lauren G AoudeNicholas K Hayward
Nov 5, 2013·The British Journal of Ophthalmology·David A MaerkerHerbert Jägle
Nov 19, 2013·Genes, Chromosomes & Cancer·Robert PilarskiMohamed H Abdel-Rahman
Dec 19, 2013·Proceedings of the National Academy of Sciences of the United States of America·Helen YuEl Bachir Affar
May 14, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·James Brugarolas

❮ Previous
Next ❯

Citations

Sep 5, 2020·International Journal of Molecular Sciences·Ece Cakiroglu, Serif Senturk
Oct 2, 2020·Proceedings of the National Academy of Sciences of the United States of America·Jiaming XueHaining Yang
Dec 16, 2020·Proceedings of the National Academy of Sciences of the United States of America·Angela BononiMichele Carbone
Jan 20, 2021·Cell Death and Differentiation·Louis MasclefEl Bachir Affar
Jan 24, 2021·Cell Death Discovery·Aileen Patricia Szczepanski, Lu Wang
Jan 18, 2021·Experimental Dermatology·Ismael A VergaraRichard A Scolyer
Mar 23, 2021·Chemical Research in Toxicology·Glen ReidAnthony M George
Feb 7, 2021·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Kathrin OehlPeter J Wild
May 1, 2021·International Journal of Molecular Sciences·Choong-Sil LeeJaewhan Song
Jan 16, 2021·Cancer Research·Anna HanAndrew E Aplin
Jul 13, 2021·Frontiers in Oncology·Stefanie HiltbrunnerFederica Grosso
Aug 5, 2021·Pigment Cell & Melanoma Research·Vivian ChuaAndrew E Aplin
Jun 12, 2021·Cancer Science·Yuta KodamaNaozumi Hashimoto
Jul 7, 2021·British Journal of Cancer·Joanna ObaczStefan J Marciniak
Nov 6, 2021·Acta Pharmacologica Sinica·Yu-Yan XuLe Yu

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adenocarcinoma, Clear Cell

Clear Cell Adenocarcinoma is a tumor that arises in the female genital tract and is characterized by cells that appear clear under the microscope. Discover the latest research here.