Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1- tumor predisposition syndrome is underreported in cancer patients-Reference-Cited by-同舟云学术

Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1- tumor predisposition syndrome is underreported in cancer patients

Published:2018-07-30 Issue:9 Volume:57 Page:478-481
ISSN:1045-2257
Container-title:Genes, Chromosomes and Cancer
language:en
Short-container-title:Genes Chromosomes Cancer

Author:

Massengill James B.¹,Sample Klarke M.¹,Pilarski Robert²,McElroy Joseph³,Davidorf Frederick H.¹,Cebulla Colleen M.¹,Abdel-Rahman Mohamed H.¹²^ORCID

Affiliation:

1. Department of Ophthalmology; The Ohio State University; Columbus Ohio

2. Division of Human Genetics, Department of Internal Medicine; The Ohio State University; Columbus Ohio

3. Center for Biostatistics, Department of Biomedical Informatics; The Ohio State University; Columbus Ohio

Funder

Patti Blow Research Fund in Ophthalmology

Ohio Lions Eye Research Foundation

National Cancer Institute

National Eye Institute

Publisher

Wiley

Subject

Cancer Research,Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/gcc.7/fullpdf

Reference12 articles.

1. Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases;Rai;Clin Genet.,2016

2. Germline BAP1 mutations predispose to renal cell carcinomas;Popova;Am J Hum Genet.,2013

3. Germline mutations in BAP1 predispose to melanocytic tumors;Wiesner;Nat Genet.,2011

4. Germline BAP1 mutations predispose to malignant mesothelioma;Testa;Nat Genet.,2011

5. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers;Abdel-Rahman;J Med Genet.,2011

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1. New pathogenic germline variants identified in mesothelioma;Lung Cancer;2023-05

2. Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk;American Journal of Ophthalmology;2021-04

3. Inherited predisposition to malignant mesothelioma: germline BAP1 mutations and beyond;EUR REV MED PHARMACO;2021

4. Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing;International Journal of Molecular Sciences;2020-12-30

5. BAP1 in solid tumors;Future Oncology;2019-06