A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer

Cancer Genetics
Kevin J McDonnellStephen B Gruber

Abstract

Germline mutations in the tumor suppressor gene, BRCA-1 associated protein (BAP1), underlie a tumor predisposition syndrome characterized by increased risk for numerous cancers including uveal melanoma, melanocytic tumors and mesothelioma, among others. In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. Family members with this mutation demonstrated a primary clinical phenotype of autosomal dominant, early-onset melanocytic neoplasms with immunohistochemistry (IHC) of these tumors demonstrating lack of BAP1 protein expression. In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. IHC analysis of the thyroid cancer, as well, demonstrated loss of BAP1 protein expression. Our investigation identifies a new BAP1 mutation, further highlights the relevance of BAP1 as a clinically important tumor suppressor gene, and broadens the range of cancers associated with BAP1 inactivation. Further study will be required to understand the full scope of BAP1-associated neoplastic disease.

References

Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Dec 1, 1985·Journal of the American Academy of Dermatology·R W SagebielW A Crutcher
Mar 21, 2001·Nature Reviews. Genetics·J H Nadeau
May 18, 2004·Current Opinion in Cell Biology·Kristian E Baker, Roy Parker
Mar 1, 2006·Virchows Archiv : an International Journal of Pathology·Kurt Werner Schmid, Nadir Rashad Farid
Aug 24, 2007·The Journal of Investigative Dermatology·Anne M LachiewiczNancy E Thomas
Dec 18, 2007·Seminars in Oncology·Julia A Newton Bishop, Nelleke A Gruis
Apr 15, 2008·The Journal of Investigative Dermatology·Anne M LachiewiczNancy E Thomas
Oct 10, 2009·The Journal of Biological Chemistry·Yuichi J MachidaAnindya Dutta
Nov 4, 2009·Molecular and Cellular Endocrinology·Norman L EberhardtHoney V Reddi
Nov 6, 2010·Science·J William HarbourAnne M Bowcock
Apr 13, 2011·Cell Biochemistry and Biophysics·Ziad M Eletr, Keith D Wilkinson
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
May 15, 2012·Journal of Medical Genetics·Anna C NeedDavid B Goldstein
Aug 11, 2012·Science·Anwesha DeyVishva M Dixit
Sep 1, 2012·Journal of Translational Medicine·Michele CarboneHaining Yang
Sep 22, 2012·Science·Anne E White, J Wade Harper
Oct 4, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Thomas WiesnerMichael R Speicher
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
Nov 5, 2013·The British Journal of Ophthalmology·David A MaerkerHerbert Jägle
Nov 8, 2013·Journal of Human Genetics·Bahareh RabbaniNejat Mahdieh
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
Mar 22, 2014·EMBO Reports·Alexandros StrikoudisIannis Aifantis
Aug 1, 2014·Clinical Genetics·A de la FouchardièreB Bressac-de Paillerets
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Yaping YangChristine M Eng
Jan 24, 2015·Science·Mathias UhlénFredrik Pontén

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Citations

Jan 23, 2016·Reproductive Biomedicine Online·Shirly Lahav-BaratzMartha Dirnfeld
Jan 18, 2017·Pigment Cell & Melanoma Research·Nicola ThompsonMarco Ranzani
Dec 6, 2018·Journal of the National Cancer Institute·Sebastian WalpoleNicholas K Hayward
Apr 11, 2019·British Journal of Cancer·Ruby Del Risco KollerudBjørgulf Claussen
Mar 4, 2017·Current Opinion in Ophthalmology·David Reichstein
Jul 22, 2020·Cancer Discovery·Michele CarboneGiovanni Gaudino

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