Discover Community Create You

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

Article

Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors.

Cancer genetics - 1 Nov 2021

Adolphe Florine, Ferlicot Sophie, Verkarre Virginie, Posseme Katia, Couvé Sophie, Garnier Pauline, Droin Nathalie, Deloger Marc, Job Bastien, Giraud Sophie, Paillerets Brigitte Bressac-de, Gardie Betty, Richard Stéphane, Renaud Flore, Gad Sophie

Abstract excerpt

Hereditary Renal Cell Carcinomas (RCC) are caused by mutations in predisposing genes, the major ones including VHL, FLCN, FH and MET. However, many families with inherited RCC have no germline mutation in these genes. Using Whole Exome Sequencing on germline DNA from a family presenting three different histological renal tumors (an angiomyolipoma, a clear-cell RCC and an oncocytic papillary RCC), we identified a...

Read the complete abstract on PubMed

Topics

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

Share to Autophagy
Share to Carcinoma, Renal Cell

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Germ-Line Mutation

Share to Intracellular Signaling Peptides and Proteins

Share to Kidney Neoplasms

Share to Pedigree

Share to Prognosis

Source

Identifiers

PMID: 34488032
DOI: 10.1016/j.cancergen.2021.07.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors.PMID 34488032Read ↗

Molecular aberrations, targeted therapy, and renal cell carcinoma: current state-of-the-art.Semantic proximity Read ↗

Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation.Semantic proximity Read ↗

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.Semantic proximity Read ↗

Germline BAP1 mutations predispose to renal cell carcinomas.Semantic proximity Read ↗

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

Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions.Semantic proximity Read ↗

Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.Semantic proximity Read ↗

[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].Semantic proximity Read ↗

Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 proteinSemantic proximity Read ↗

A germline mutation in PBRM1 predisposes to renal cell carcinoma.Semantic proximity Read ↗

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.Semantic proximity Read ↗

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.Semantic proximity Read ↗

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