Skip to content. | Skip to navigation

National Cancer Institute U.S. National Institutes of Health www.cancer.gov

Navigation

Personal tools

You are here: Home / Biomarkers / BRCA1

BRCA1

Basics

Aliases:
This biomarker is also known as:
  • breast and ovarian cancer sususceptibility protein 1,
  • BRCAI,
  • IRIS,
  • protein phosphatase 1, regulatory subunit 53,
  • RNF53,
  • breast cancer 1, early onset,
  • EC 6.3.2.-,
  • breast cancer type 1 susceptibility protein,
  • PPP1R53,
  • PSCP,
  • BROVCA1,
  • BRCA1/BRCA2-containing complex, subunit 1,
  • breast and ovarian cancer susceptibility protein 1,
  • BRCC1,
  • PNCA4,
  • RING finger protein 53,

Description…

BRCA1 is a nuclear phosphoprotein that functions as a tumor suppressor. BRCA1 combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). BRCA1 associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers.

Attributes

QA State: Curated
Type: Protein
Short Name:
HGNC Name: BRCA1

Datasets

There are no datasets associated with this biomarker.

Organs

The following organs have data associated with this biomarker…

Breast

Attributes

Phase: Two
QA State: Under Review

Overview

BRCA1 is expressed in breast tissue and has been shown to be overexpressed in cancer.

Performance Comment

BRCA1 was one of numerous potential early detection biomarkers specific to triple-negative breast cancer in multiple pathways identified.

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Biomuta

Mutation Statistics

Gene Name: BRCA1
UniProt Accession #: P38398
Mutated Sites Count: 1
Associated Pubmed ID Count 1
CancerDO Count 1
Affected Protein Function Sites Count: 1

View in BioMuta