22 Facts About BRCA1

BRCA1 is a human tumor suppressor gene and is responsible for repairing DNA.

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 .

BRCA1 orthologs have been identified in most vertebrates for which complete genome data are available.

BRCA1 is unrelated to BRCA2, i e they are not homologs or paralogs.

The C-terminal BRCT region of the BRCA1 protein is essential for repair of DNA, transcription regulation and tumor suppressor function.

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BRCA1 is part of a complex that repairs double-strand breaks in DNA.

Double-strand breaks occur as intermediates after the crosslinks are removed, and indeed, biallelic mutations in BRCA1 have been identified to be responsible for Fanconi Anemia, Complementation Group S, a genetic disease associated with hypersensitivity to DNA crosslinking agents.

BRCA1 is part of a protein complex that repairs DNA when both strands are broken.

The double-strand repair mechanism in which BRCA1 participates is homology-directed repair, where the repair proteins copy the identical sequence from the intact sister chromatid.

BRCA1 is involved in another type of DNA repair, termed mismatch repair.

BRCA1 was shown to co-purify with the human RNA Polymerase II holoenzyme in HeLa extracts, implying it is a component of the holoenzyme.

Researchers believe that the defective BRCA1 protein is unable to help fix DNA damage leading to mutations in other genes.

BRCA1 expression is reduced or undetectable in the majority of high grade, ductal breast cancers.

In particular, decreased BRCA1 expression contributes to both sporadic and inherited breast tumor progression.

Since cells that lack the BRCA1 protein tend to repair DNA damages by alternative more error-prone mechanisms, the reduction or silencing of this protein generates mutations and gross chromosomal rearrangements that can lead to progression to breast cancer.

In cells with over-expressed miR-182, BRCA1 remained low, even after exposure to ionizing radiation .

All germ-line BRCA1 mutations identified to date have been inherited, suggesting the possibility of a large "founder" effect in which a certain mutation is common to a well-defined population group and can, in theory, be traced back to a common ancestor.

Women with a germ-line BRCA1 mutation appear to have a diminished oocyte reserve and decreased fertility compared to normally aging women.

Since BRCA1 is a key DNA repair protein, these findings suggest that naturally occurring DNA damages in oocytes are repaired less efficiently in women with a BRCA1 defect, and that this repair inefficiency leads to early reproductive failure.

Level of BRCA1 expression is relevant to ovarian cancer treatment.

Patients having sporadic ovarian cancer who were treated with platinum drugs had longer median survival times if their BRCA1 expression was low compared to patients with higher BRCA1 expression .

BRCA1 has been shown to interact with the following proteins:.