BRCA1

Official symbol

BRCA1

Official full name

BRCA1, DNA repair associated

Gene ID

672

Gene type

-

Other name

BRCAI,BRCC1,BROVCA1,FANCS,IRIS,PNCA4,PPP1R53,PSCP,RNF53

Gene location

Gene introduction

This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein 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). This gene product 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. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009].

Cancer pathway

The main pathways: The cell signaling pathways that are involved in DNA damage are displayed. Excision repair cross-complementation group genes (ERCC-1/-4), X-ray repair complementing defective repair in Chinese hamster cells genes (XRCC-1/-5/-6), poly(ADP-ribose) polymerase 1 (PARP1), the Fanconi anemia gene complex (FANC-A/-C/-D2/-E/-F/-G/-L), Rad51 recombinase (RAD51), ATM serine/threonine kinase (ATM), ATR serine/threonine kinase (ATR), protein kinase, DNA-activated catalytic polypeptide (PRKDC), and the breast cancer, early onset genes (BRCA1/2) are included in the DNA damage pathway. Specific nodes in the pathway that are therapeutically actionable are noted. Click here to open a larger version of this image in a new window.

Related to cancer

Breast cancer 1, early onset (BRCA1) is a gene that encodes a protein that functions in maintaining genomic stability and as a tumor suppressor. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

Alteration in cancer

Related drugs in cancer