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Aliases for BRCA1 Gene

Aliases for BRCA1 Gene

  • BRCA1, DNA Repair Associated 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 53 2 3
  • BRCA1/BRCA2-Containing Complex, Subunit 1 2 3
  • Fanconi Anemia, Complementation Group S 2 3
  • Breast Cancer 1, Early Onset 2 3
  • RING Finger Protein 53 3 4
  • RNF53 3 4
  • Breast And Ovarian Cancer Susceptibility Protein 1 3
  • Breast Cancer Type 1 Susceptibility Protein 3
  • Early Onset Breast Cancer 1 3
  • Breast Cancer 1 2
  • EC 6.3.2.- 4
  • EC 6.3.2 61
  • BROVCA1 3
  • PPP1R53 3
  • BRCAI 3
  • BRCC1 3
  • FANCS 3
  • PNCA4 3
  • IRIS 3
  • PSCP 3

External Ids for BRCA1 Gene

Previous GeneCards Identifiers for BRCA1 Gene

  • GC17P062255
  • GC17M043361
  • GC17M041105
  • GC17M041569
  • GC17M038450
  • GC17M041197
  • GC17M036962

Summaries for BRCA1 Gene

Entrez Gene Summary for BRCA1 Gene

  • 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]

GeneCards Summary for BRCA1 Gene

BRCA1 (BRCA1, DNA Repair Associated) is a Protein Coding gene. Diseases associated with BRCA1 include Breast-Ovarian Cancer, Familial, 1 and Pancreatic Cancer 4. Among its related pathways are DNA Double-Strand Break Repair and DNA Damage Induced 14-3-3Sigma Signaling. GO annotations related to this gene include RNA binding and ligase activity.

UniProtKB/Swiss-Prot for BRCA1 Gene

  • E3 ubiquitin-protein ligase that specifically mediates the formation of Lys-6-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator (PubMed:20160719).

Gene Wiki entry for BRCA1 Gene

PharmGKB "VIP" Summary for BRCA1 Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for BRCA1 Gene

Genomics for BRCA1 Gene

Regulatory Elements for BRCA1 Gene

Enhancers for BRCA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around BRCA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the BRCA1 gene promoter:

Genomic Location for BRCA1 Gene

Chromosome:
17
Start:
43,044,295 bp from pter
End:
43,170,245 bp from pter
Size:
125,951 bases
Orientation:
Minus strand

Genomic View for BRCA1 Gene

Genes around BRCA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRCA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRCA1 Gene

Proteins for BRCA1 Gene

  • Protein details for BRCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38398-BRCA1_HUMAN
    Recommended name:
    Breast cancer type 1 susceptibility protein
    Protein Accession:
    P38398
    Secondary Accessions:
    • E9PFZ0
    • O15129
    • Q1RMC1
    • Q3LRJ0
    • Q3LRJ6
    • Q6IN79
    • Q7KYU9

    Protein attributes for BRCA1 Gene

    Size:
    1863 amino acids
    Molecular mass:
    207721 Da
    Quaternary structure:
    • Heterodimer with BARD1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the MRE11-RAD50-NBN protein (MRN) complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. Interacts (via the BRCT domains) with FAM175A (phosphorylated form); this is important for recruitment to sites of DNA damage. Can form a heterotetramer with two molecules of FAM175A (phosphorylated form). Component of the BRCA1-RBBP8 complex. Interacts (via the BRCT domains) with RBBP8 (Ser-327 phosphorylated form); the interaction ubiquitinates RBBP8, regulates CHEK1 activation, and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A, COBRA1, DCLRE1C, CLSPN. CHEK1, CHEK2, BAP1, BRCC3, AURKA, UBXN1 and KIAA0101/PAF15. Interacts (via BRCT domains) with BRIP1 (phosphorylated form). Interacts with FANCD2 (ubiquitinated form). Interacts with H2AFX (phosphorylated on Ser-140). Interacts (via the BRCT domains) with ACACA (phosphorylated form); the interaction prevents dephosphorylation of ACACA. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts directly with PALB2; the interaction is essential for its function in HRR. Interacts directly with BRCA2; the interaction occurs only in the presence of PALB2 which serves as the bridging protein. Interacts (via the BRCT domains) with LMO4; the interaction represses the transcriptional activity of BRCA1. Interacts (via the BRCT domains) with CCAR2 (via N-terminus); the interaction represses the transcriptional activator activity of BRCA1. Interacts with EXD2 (PubMed:26807646).
    SequenceCaution:
    • Sequence=AAB61673.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAI15038.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI15038.1; Type=Erroneous termination; Positions=526; Note=Translated as Gln.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BRCA1 Gene

    Alternative splice isoforms for BRCA1 Gene

neXtProt entry for BRCA1 Gene

Post-translational modifications for BRCA1 Gene

  • Autoubiquitinated, undergoes Lys-6-linked polyubiquitination. Lys-6-linked polyubiquitination does not promote degradation.
  • Phosphorylation at Ser-308 by AURKA is required for normal cell cycle progression from G2 to mitosis. Phosphorylated in response to IR, UV, and various stimuli that cause checkpoint activation, probably by ATM or ATR. Phosphorylation at Ser-988 by CHEK2 regulates mitotic spindle assembly.
  • Ubiquitination at Lys 987
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BRCA1 (BRCA1)
  • Cloud-Clone Corp. Antibodies for BRCA1

Domains & Families for BRCA1 Gene

Graphical View of Domain Structure for InterPro Entry

P38398

UniProtKB/Swiss-Prot:

BRCA1_HUMAN :
  • The BRCT domains recognize and bind phosphorylated pSXXF motif on proteins. The interaction with the phosphorylated pSXXF motif of FAM175A/Abraxas, recruits BRCA1 at DNA damage sites.
  • Contains 1 RING-type zinc finger.
Domain:
  • The BRCT domains recognize and bind phosphorylated pSXXF motif on proteins. The interaction with the phosphorylated pSXXF motif of FAM175A/Abraxas, recruits BRCA1 at DNA damage sites.
  • The RING-type zinc finger domain interacts with BAP1.
  • Contains 2 BRCT domains.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with BRCA1: view

Function for BRCA1 Gene

Molecular function for BRCA1 Gene

GENATLAS Biochemistry:
nuclear cell cycle regulated phosphoprotein of breast epithelium,located at the centrosome during M phase,associating with RAD51 (RECA) at S phase of mitosis,putative negative regulator of cell growth (in a RB-dependent fashion),phosphorylated by ATM protein kinase in response to ionizing radiation induced DNA damage,then activating DNA repair through homologous recombination in cooperation with BRCA2,RAD51 and RAD52,P-BRCA,also complexing with RNA polymerase II holoenzyme,may also regulate transcription,recruiting CREBBP and interacting with components of the histone deacetylase complex,mediating ubiquitin-conjugating enzyme (E2)-dependent ubiquitination through the RING finger domain,induction of BRCA1 triggers JNK/SAPK (MAPK8) dependent apoptosis through induction of DDIT1 (GADD45)
UniProtKB/Swiss-Prot EnzymeRegulation:
The E3 ubiquitin-protein ligase activity is inhibited by phosphorylation by AURKA. Activity is increased by phosphatase treatment.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that specifically mediates the formation of Lys-6-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator (PubMed:20160719).

Enzyme Numbers (IUBMB) for BRCA1 Gene

Gene Ontology (GO) - Molecular Function for BRCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9662397
GO:0003682 chromatin binding IEA --
GO:0003684 damaged DNA binding IEA --
GO:0003713 transcription coactivator activity NAS 15572661
GO:0003723 RNA binding IDA 12419249
genes like me logo Genes that share ontologies with BRCA1: view

Phenotypes for BRCA1 Gene

MGI mutant phenotypes for BRCA1:
inferred from 21 alleles
GenomeRNAi human phenotypes for BRCA1:
genes like me logo Genes that share phenotypes with BRCA1: view

Human Phenotype Ontology for BRCA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BRCA1 Gene

MGI Knock Outs for BRCA1:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for BRCA1

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for BRCA1 Gene

Localization for BRCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRCA1 Gene

Nucleus. Chromosome. Cytoplasm. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by FAM175A and the BRCA1-A complex (PubMed:26778126). Translocated to the cytoplasm during UV-induced apoptosis (PubMed:20160719). {ECO:0000269 PubMed:20160719, ECO:0000269 PubMed:26778126}.
Isoform 3: Cytoplasm.
Isoform 5: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BRCA1 Gene COMPARTMENTS Subcellular localization image for BRCA1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for BRCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex NAS 14976165
GO:0000793 condensed chromosome IEA --
GO:0000794 condensed nuclear chromosome IEA --
GO:0005634 nucleus IDA 17525340
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with BRCA1: view

Pathways & Interactions for BRCA1 Gene

genes like me logo Genes that share pathways with BRCA1: view

UniProtKB/Swiss-Prot P38398-BRCA1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for BRCA1 Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for BRCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IDA 17349954
GO:0000729 DNA double-strand break processing TAS --
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0006260 DNA replication TAS --
genes like me logo Genes that share ontologies with BRCA1: view

Drugs & Compounds for BRCA1 Gene

(73) Drugs for BRCA1 Gene - From: PharmGKB, ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Olaparib Approved Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors 117
Carboplatin Approved Pharma Biomarker Antitumor agent that forms platinum-DNA adducts., Platinum 1942
Cisplatin Approved Pharma Biomarker, inhibitor Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2614
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1880
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 1928

(71) Additional Compounds for BRCA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BRCA1: view

Transcripts for BRCA1 Gene

Unigene Clusters for BRCA1 Gene

Breast cancer 1, early onset:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for BRCA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BRCA1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a ·
SP1: - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - - - - -
SP6:
SP7: - -
SP8:

ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for BRCA1 Gene

GeneLoc Exon Structure for
BRCA1
ECgene alternative splicing isoforms for
BRCA1

Expression for BRCA1 Gene

mRNA expression in normal human tissues for BRCA1 Gene

Protein differential expression in normal tissues from HIPED for BRCA1 Gene

This gene is overexpressed in Bone (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRCA1 Gene



Protein tissue co-expression partners for BRCA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BRCA1 Gene:

BRCA1

SOURCE GeneReport for Unigene cluster for BRCA1 Gene:

Hs.194143

mRNA Expression by UniProt/SwissProt for BRCA1 Gene:

P38398-BRCA1_HUMAN
Tissue specificity: Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.
genes like me logo Genes that share expression patterns with BRCA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BRCA1 Gene

Orthologs for BRCA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BRCA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BRCA1 34
  • 83.67 (n)
  • 72.62 (a)
BRCA1 35
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRCA1 34
  • 84.14 (n)
  • 74.84 (a)
BRCA1 35
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brca1 34
  • 74.24 (n)
  • 58.16 (a)
Brca1 16
Brca1 35
  • 55 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BRCA1 34
  • 99.27 (n)
  • 98.17 (a)
BRCA1 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brca1 34
  • 75.1 (n)
  • 58.17 (a)
oppossum
(Monodelphis domestica)
Mammalia BRCA1 35
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRCA1 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRCA1 34
  • 54.18 (n)
  • 40.73 (a)
BRCA1 35
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRCA1 35
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10583 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.12105 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToOne
Species where no ortholog for BRCA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BRCA1 Gene

ENSEMBL:
Gene Tree for BRCA1 (if available)
TreeFam:
Gene Tree for BRCA1 (if available)

Paralogs for BRCA1 Gene

genes like me logo Genes that share paralogs with BRCA1: view

No data available for Paralogs for BRCA1 Gene

Variants for BRCA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for BRCA1 Gene

BRCA1_HUMAN-P38398
There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms may be associated with an increased risk for developing ovarian cancer.

Sequence variations from dbSNP and Humsavar for BRCA1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_007754 -
VAR_007755 -
VAR_007756 Breast cancer (BC)
rs28897672 Breast cancer (BC), Ovarian cancer (OC) 43,106,487(+) CACAG(A/C/G/T)GTCCT nc-transcript-variant, reference, missense
VAR_007758 Breast cancer (BC)

Structural Variations from Database of Genomic Variants (DGV) for BRCA1 Gene

Variant ID Type Subtype PubMed ID
dgv3175n100 CNV gain 25217958
esv2667044 CNV deletion 23128226
esv2672913 CNV deletion 23128226
esv2715952 CNV deletion 23290073
esv33998 OTHER inversion 15654335
esv3640620 CNV loss 21293372
nsv1058169 CNV loss 25217958
nsv1058376 CNV loss 25217958
nsv1059971 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv457743 CNV loss 19166990
nsv470587 CNV loss 18288195
nsv575053 CNV loss 21841781
nsv827999 CNV loss 20364138
nsv962327 CNV duplication 23825009

Variation tolerance for BRCA1 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.15; 93.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRCA1 Gene

Human Gene Mutation Database (HGMD)
BRCA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRCA1
BRCA Exchange expert-reviewed variants for
BRCA1

Disorders for BRCA1 Gene

MalaCards: The human disease database

(61) MalaCards diseases for BRCA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
breast-ovarian cancer, familial, 1
  • brovca1
pancreatic cancer 4
  • pnca4
brca1 hereditary breast and ovarian cancer syndrome
  • familial susceptibility to breast-ovarian cancer 1
ovarian cancer
  • malignant ovarian tumor
hereditary breast ovarian cancer
  • breast/ovarian cancer, hereditary
- elite association - COSMIC cancer census association via MalaCards
Search BRCA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BRCA1_HUMAN
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:10323242, ECO:0000269 PubMed:12442275, ECO:0000269 PubMed:12938098, ECO:0000269 PubMed:14722926, ECO:0000269 PubMed:18285836, ECO:0000269 PubMed:7545954, ECO:0000269 PubMed:7894491, ECO:0000269 PubMed:7894493, ECO:0000269 PubMed:7939630, ECO:0000269 PubMed:8554067, ECO:0000269 PubMed:8723683, ECO:0000269 PubMed:8776600, ECO:0000269 PubMed:9482581, ECO:0000269 PubMed:9609997, ECO:0000269 PubMed:9760198}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination.
  • Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. {ECO:0000269 PubMed:12938098, ECO:0000269 PubMed:14722926, ECO:0000269 PubMed:8968716}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer.
  • Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269 PubMed:10196379, ECO:0000269 PubMed:10486320, ECO:0000269 PubMed:14746861}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Pancreatic cancer 4 (PNCA4) [MIM:614320]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. {ECO:0000269 PubMed:18762988}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Genatlas disease for BRCA1 Gene

breast carcinoma,early onset,high tumor grade,negative estrogen and progesterone receptor status,and high proliferative rate,breast ovarian cancer family,familial site-specific ovarian cancer,Lynch syndrome II (see TSG17B),excluding familial male breast cancer,including early onset gastric carcinoma,not frequently prostate carcinomas

Relevant External Links for BRCA1

Genetic Association Database (GAD)
BRCA1
Human Genome Epidemiology (HuGE) Navigator
BRCA1
Tumor Gene Database (TGDB):
BRCA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRCA1
genes like me logo Genes that share disorders with BRCA1: view

Publications for BRCA1 Gene

  1. Estrogen receptor positive breast cancers in BRCA1 mutation carriers: clinical risk factors and pathologic features. (PMID: 20149218) Tung N. … Schnitt S.J. (Breast Cancer Res. 2010) 3 22 46 65
  2. Excretion of estrogens, catecholestrogens and phytoestrogens in carriers of BRCA1 gene mutations: effects of metformin. (PMID: 20429624) Berstein L.M. … Adlercreutz H. (Neoplasma 2010) 3 22 46 65
  3. BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. (PMID: 18512148) Chen W. … Xie Y. (Breast Cancer Res. Treat. 2009) 3 22 46 65
  4. [Analysis of BRCA1 gene mutations in patients with early-onset breast cancer and their affected relatives in Guangdong province]. (PMID: 19246281) Zhou J. … Shao Z.M. (Nan Fang Yi Ke Da Xue Xue Bao 2009) 3 22 46 65
  5. Basal cytokeratin and epidermal growth factor receptor expression are not predictive of BRCA1 mutation status in women with triple-negative breast cancers. (PMID: 19390427) Collins L.C. … Garber J.E. (Am. J. Surg. Pathol. 2009) 3 22 46 65

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