Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer

scientific article published on 23 April 2019

Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/GCC.22752
P932PMC publication ID6612571
P698PubMed publication ID30883995

P50authorMohamed H Abdel-RahmanQ59551053
Timothy W GroselQ86026113
P2093author name stringJoseph P McElroy
Colleen M Cebulla
Robert Pilarski
Arun Singh
Meghan J Marino
Frederick H Davidorf
Getachew Boru
James B Massengill
Joanne Jeter
Meredith Stautberg
P2860cites workComprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families WorldwideQ90281138
High incidence of somatic BAP1 alterations in sporadic malignant mesotheliomaQ24170431
Germline mutations in BAP1 predispose to melanocytic tumorsQ24594891
Frequent mutation of BAP1 in metastasizing uveal melanomasQ24601069
Germline BAP1 mutations predispose to malignant mesotheliomaQ24635326
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable databaseQ24813953
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new casesQ28397229
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.Q33697377
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancersQ34218657
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma familiesQ34251101
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesisQ34741236
Germline BAP1 mutations predispose to renal cell carcinomasQ36909238
The contribution of germline rearrangements to the spectrum of BRCA2 mutationsQ36930173
Germline BAP1 alterations in familial uveal melanoma.Q38805682
BAP1 Germline Mutations in Finnish Patients with Uveal MelanomaQ39997349
Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal MelanomaQ40082486
Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 MutationsQ40939840
High frequency of submicroscopic hemizygous deletion is a major mechanism of loss of expression of PTEN in uveal melanomaQ43509621
Common, germline genetic variations in the novel tumor suppressor BAP1 and risk of developing different types of cancerQ44246583
Frequent genomic rearrangements of BRCA1 associated protein-1 (BAP1) gene in Japanese malignant mesothelioma-characterization of deletions at exon level.Q50948649
Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma.Q51783814
Melanoma candidate genes CDKN2A/p16/INK4A, p14ARF, and CDK4 sequencing in patients with uveal melanoma with relative high-risk for hereditary cancer predisposition.Q54603640
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesQ57266419
Silencing of thePTENtumor-suppressor gene in anaplastic thyroid cancerQ57591241
G-quadruplexes in the BAP1 promoter positively regulate its expressionQ57753496
MSH2 genomic deletions are a frequent cause of HNPCCQ62977773
Hereditary uveal melanoma: a report of a germline mutation in BAP1Q85938099
P433issue9
P921main subjectuveal melanomaQ356372
P304page(s)650-656
P577publication date2019-04-23
P1433published inGenes, Chromosomes and CancerQ5532697
P1476titleGermline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer
P478volume58

Reverse relations

Q89817215Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanomacites workP2860

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