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

A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein.

Cancer biology & therapy - 1 Jan 2000

Worley Terri, Vallon-Christersson Johan, Billack Blase, Borg Ake, Monteiro Alvaro N A

Abstract excerpt

Recent evidence suggests that the breast and ovarian cancer susceptibility gene product BRCA1 is involved in at least two fundamental cellular processes: transcriptional regulation and DNA repair. However, the mechanism of action of BRCA1 in either of these processes is still unknown. Here, we report the characterization of a disease-predisposing allele of BRCA1, identified in a family with several cases of...

Read the complete abstract on PubMed

Topics

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

Share to BRCA1 Protein
Share to Conserved Sequence
Share to Genes, BRCA1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Reporter

Share to Point Mutation

Share to Protein Structure, Secondary

Share to Temperature

Share to Transcriptional Activation

Source

Identifiers

PMID: 12496476
DOI: 10.4161/cbt.1.5.164

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein.PMID 12496476Read ↗

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.Semantic proximity Read ↗

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.Semantic proximity Read ↗

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.Semantic proximity Read ↗

Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.Semantic proximity Read ↗

Bovine BRCA1 shows classic responses to genotoxic stress but low in vitro transcriptional activation activity.Semantic proximity Read ↗

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.Semantic proximity Read ↗

Detection of a novel mutation in exon 20 of the BRCA1 gene.Semantic proximity Read ↗

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.Semantic proximity Read ↗

[Mapping of BRCT1 domain of BRCA1 with chromatin unfolding activity].Semantic proximity Read ↗

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.Semantic proximity Read ↗

The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.Semantic proximity Read ↗

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variantsSemantic proximity Read ↗

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