Germline BAP1 mutations predispose to renal cell carcinomas.

doi:10.1016/j.ajhg.2013.04.012

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Germline BAP1 mutations predispose to renal cell carcinomas.

American journal of human genetics - 6 Jun 2013

Popova Tatiana, Hebert Lucie, Jacquemin Virginie, Gad Sophie, Caux-Moncoutier Virginie, Dubois-d'Enghien Catherine, Richaudeau Bénédicte, Renaudin Xavier, Sellers Jason, Nicolas André, Sastre-Garau Xavier, Desjardins Laurence, Gyapay Gabor, Raynal Virginie, Sinilnikova Olga M, Andrieu Nadine, Manié Elodie, de Pauw Antoine, Gesta Paul, Bonadona Valérie, Maugard Christine M, Penet Clotilde, Avril Marie-Françoise, Barillot Emmanuel, Cabaret Odile, Delattre Olivier, Richard Stéphane, Caron Olivier, Benfodda Meriem, Hu Hui-Han, Soufir Nadem, Bressac-de Paillerets Brigitte, Stoppa-Lyonnet Dominique, Stern Marc-Henri

Abstract excerpt

The genetic cause of some familial nonsyndromic renal cell carcinomas (RCC) defined by at least two affected first-degree relatives is unknown. By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a germline BAP1 mutation c.277A>G (p.Thr93Ala) a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ubiquitin Thiolesterase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carcinoma, Renal Cell

Share to Exome

Share to Genetic Association Studies

Share to Germ-Line Mutation

Share to Kidney Neoplasms

Share to Mutation, Missense

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23684012
DOI: 10.1016/j.ajhg.2013.04.012
PMCID: PMC3675229

Genes

BAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23684012-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline BAP1 mutations predispose to renal cell carcinomas.PMID 23684012Read ↗

Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer.Semantic proximity Read ↗

A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers.Semantic proximity Read ↗

A Novel Germline Mutation in <i>BAP1</i> Predisposes to Familial Clear-Cell Renal Cell CarcinomaSemantic proximity Read ↗

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.Semantic proximity Read ↗

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.Semantic proximity Read ↗

The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk AssessmentSemantic proximity Read ↗

Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing.Semantic proximity Read ↗

A population-based analysis of germline BAP1 mutations in melanoma.Semantic proximity Read ↗

Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.Semantic proximity Read ↗

Tumours associated with BAP1 mutations.Semantic proximity Read ↗

BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome.Semantic proximity Read ↗

Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.