Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members

Journal of Translational Medicine
Muaiad Kittaneh, Charles Berkelhammer

Abstract

Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who developed malignant peritoneal mesothelioma at age 45 in the absence of known asbestos exposure. These findings lead us to hypothesize that the mesothelioma occurred in the setting of germline a BAP1 mutation. This was confirmed by genetic testing. The subsequent therapeutic choices for the patient and testing of at-risk family members highlight the importance of recognizing this genetic syndrome and screening for individuals at high risk.

References

Oct 19, 2006·Seminars in Diagnostic Pathology·Michele Carbone, Carlos W M Bedrossian
Jan 26, 2007·Nature Reviews. Cancer·Michele CarboneY Izzettin Baris
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 1, 2012·Journal of Translational Medicine·Michele CarboneHaining Yang
Apr 4, 2013·Nature Reviews. Cancer·Michele CarboneGiovanni Gaudino
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
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
Jun 5, 2014·Cancer Research·Ismail Hassan IsmailMichael J Hendzel
Aug 1, 2014·Clinical Genetics·A de la FouchardièreB Bressac-de Paillerets
Nov 9, 2014·Carcinogenesis·Francine BaumannMichele Carbone
Dec 17, 2014·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Marco Lo IaconoGiorgio V Scagliotti
Feb 7, 2015·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Masaki NasuMichele Carbone
Feb 11, 2015·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Francine BaumannMichele Carbone
Jul 4, 2015·Biomarker Research·Sonja KlebeMichele Carbone
Jul 28, 2016·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Michele CarboneShakun Malik
Nov 12, 2016·Proceedings of the National Academy of Sciences of the United States of America·Yoshie YoshikawaMichele Carbone
May 10, 2017·Neuro-oncology·Ganesh M Shankar, Sandro Santagata
Jul 1, 2017·Cell Death and Differentiation·Angela BononiMichele Carbone
Jul 15, 2017·Annals of Translational Medicine·Michele Carbone, Haining Yang
Jul 15, 2017·Annals of Translational Medicine·Salih A Emri
Oct 25, 2017·World Neurosurgery·Megan C KaszubaRobert J Spinner

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Citations

Oct 31, 2018·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sandra PastorinoMichele Carbone
Jun 5, 2019·Future Oncology·Vincenzo Di NunnoFrancesco Massari
Jul 22, 2020·Cancer Discovery·Michele CarboneGiovanni Gaudino
Feb 1, 2020·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Daniel RathkeyRaffit Hassan
Jan 16, 2021·Cancer Research·Anna HanAndrew E Aplin

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