BRCA1

breast cancer 1, early onset
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Known Variants (dbSNP)
Harmful Beneficial Normal
- - -
Novel Variants
Harmful Beneficial Normal
- - -
Variants by Type Count
Insertions & Deletions 0
Known Variants (dbSNP) 0
With Severity Score 0
Total 0

Known vs. Novel Variants
Known Variants
0
Novel
0

Functional Consequence of Variants
Known Variants
Novel Variants
Known Variants Novel Variants
Harmful, Score > 3
0
0
Beneficial
0
0
Normal, Score 0-2
0
0

Gene Details  

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]

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Pharmaceuticals  
FDA approved drugs to treat condition Click on drug names to see more info
Chemotherapy

Chemotherapy (sometimes cancer chemotherapy) is the treatment of cancer with an antineoplastic drug or with a combination of such drugs into a standardized treatment regimen. Most commonly, chemotherapy acts by killing cells that divide rapidly, one of the main properties of most cancer cells. This means that it also harms cells that divide rapidly under normal circumstances: cells in the bone marrow, digestive tract and hair follicles; this results in the most common side effects of chemotherapy: myelosuppression (decreased production of blood cells, hence also immunosuppression), mucositis (inflammation of the lining of the digestive tract), and alopecia (hair loss). Newer anticancer drugs act directly against abnormal proteins in cancer cells; this is termed targeted therapy and is technically not chemotherapy.

Drugs in clinical trials
PARP inhibitors eg., Olaparib Iniparib

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