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BRCA1 Gene

protein-coding   GIFtS: 72
GCID: GC17M041197

Breast Cancer 1, Early Onset

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Breast Cancer 1, Early Onset1 2     BRCC12
RNF532 3     IRIS2
RING Finger Protein 532 3     PPP1R532
BROVCA12 5     BRCA1/BRCA2-Containing Complex, Subunit 12
PNCA42 5     Breast And Ovarian Cancer Susceptibility Protein 12
PSCP2 5     Breast And Ovarian Cancer Sususceptibility Protein 12
BRCA1/BRCA2-Containing Complex1     Breast Cancer Type 1 Susceptibility Protein2
Protein Phosphatase 11     Protein Phosphatase 1, Regulatory Subunit 532
Regulatory Subunit 531     EC 6.3.2.-3
Subunit 11     EC 6.3.28
BRCAI2     

External Ids:    HGNC: 11001   Entrez Gene: 6722   Ensembl: ENSG000000120487   OMIM: 1137055   UniProtKB: P383983   

Export aliases for BRCA1 gene to outside databases

Previous GC identifers: GC17P062255 GC17M043361 GC17M041105 GC17M041569 GC17M038450 GC17M036962


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (breast cancer 1, early onset) is a protein-coding gene. Diseases associated with BRCA1 include hereditary breast ovarian cancer, and radiation induced cancer. GO annotations related to this gene include RNA binding and enzyme binding.

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
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

Gene Wiki entry for BRCA1 (Talk:BRCA1) Gene

PharmGKB "VIP" summary for BRCA1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BRCA1 gene promoter:
         ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBRCA1 promoter sequence
   Search Chromatin IP Primers for BRCA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BRCA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

BRCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRCA1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M041197:  view genomic region     (about GC identifiers)

Start:
41,196,312 bp from pter      End:
41,277,500 bp from pter
Size:
81,189 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 (See protein sequence)
Recommended Name: Breast cancer type 1 susceptibility protein  
Size: 1863 amino acids; 207721 Da
Subunit: 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 the BRCA1, BARD1, UIMC1, BRCC3, BRE and BABAM1. Interacts (via the BRCT domains)
with FAM175A. 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 and COBRA1. Interacts (via BRCT domains) with BRIP1 (phosphorylated form). Interacts with FANCD2
(ubiquitinated form). Interacts with BAP1. Interacts with DCLRE1C and CLSPN. Interacts with H2AFX (phosphorylated
on 'Ser-140'). Interacts with CHEK1 and CHEK2. Interacts with BRCC3. Interacts (via the BRCT domains) with ACACA
(phosphorylated form); the interaction prevents dephosphorylation of ACACA. Interacts with AURKA. Interacts with
UBXN1. Part of a trimeric 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 with KIAA0101/PAF15
Sequence caution: Sequence=AAB61673.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Selected PDB 3D structures from and Proteopedia for BRCA1 (see all 22):
1JM7 (3D)        1JNX (3D)        1N5O (3D)        1OQA (3D)        1T15 (3D)        1T29 (3D)    
Secondary accessions: O15129 Q3LRJ0 Q3LRJ6 Q6IN79 Q7KYU9
Alternative splicing, Alternative initiation: 6 isoforms:  P38398-1   P38398-2   P38398-3   P38398-4   P38398-5   P38398-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BRCA1: NX_P38398

Explore proteomics data for BRCA1 at MOPED

Post-translational modifications: 

  • 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 assembly1
  • Autoubiquitinated, undergoes 'Lys-6'-linked polyubiquitination. 'Lys-6'-linked polyubiquitination does not promote
    degradation1
  • Ubiquitination2 at Lys987
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BRCA1 (P38398) (see all 51)
     AKCSIKG  GRNHQGP  CPICLEL  ITKRSLQ 


    See BRCA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_009225.1  NP_009228.2  NP_009229.2  NP_009230.2  NP_009231.2  

    ENSEMBL proteins: 
     ENSP00000350283   ENSP00000417148   ENSP00000465818   ENSP00000467329   ENSP00000465347  
     ENSP00000418775   ENSP00000418960   ENSP00000418548   ENSP00000420705   ENSP00000419481  
     ENSP00000420412   ENSP00000418819   ENSP00000418212   ENSP00000417241   ENSP00000397145  
     ENSP00000419274   ENSP00000419988   ENSP00000420253   ENSP00000418986   ENSP00000419103  
     ENSP00000420201   ENSP00000417554   ENSP00000417988   ENSP00000420781   ENSP00000326002  
     ENSP00000312236   ENSP00000246907   ENSP00000338007   ENSP00000310938  
    Reactome Protein details: P38398

    BRCA1 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BRCA1
    GenScript Custom Purified and Recombinant Proteins Services for BRCA1
    Novus Biologicals BRCA1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BRCA1

    BRCA1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of BRCA1
    R&D Systems Antibodies for BRCA1
    Cell Signaling Technology (CST) Antibodies for BRCA1 
    OriGene Antibodies for BRCA1
    OriGene Custom Antibody Services for BRCA1
    Novus Biologicals BRCA1 Antibodies
    Abcam antibodies for BRCA1
    Cloud-Clone Corp. Antibodies for BRCA1
    ThermoFisher Antibodies for BRCA1
    LSBio Antibodies in human, mouse, rat for BRCA1

    BRCA1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BRCA1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BRCA1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BRCA1
    Cloud-Clone Corp. CLIAs for BRCA1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits
    RNF: RING-type (C3HC4) zinc fingers

    Selected InterPro protein domains (see all 7):
     IPR001841 Znf_RING
     IPR011364 BRCA1
     IPR013083 Znf_RING/FYVE/PHD
     IPR017907 Znf_RING_CS
     IPR018957 Znf_C3HC4_RING-type

    Graphical View of Domain Structure for InterPro Entry P38398

    ProtoNet protein and cluster: P38398

    3 Blocks protein domains:
    IPB001357 BRCT domain
    IPB001841 Zn-finger
    IPB002378 Breast cancer type I susceptibility protein signature


    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
    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
    Domain: The RING-type zinc finger domain interacts with BAP1
    Similarity: Contains 2 BRCT domains
    Similarity: Contains 1 RING-type zinc finger


    BRCA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BRCA1_HUMAN, P38398
    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
    Enzyme regulation: The E3 ubiquitin-protein ligase activity is inhibited by phosphorylation by AURKA. Activity is
    increased by phosphatase treatment

         Genatlas biochemistry entry for BRCA1:
    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)

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9662397
    GO:0003684damaged DNA binding ----
    GO:0003713transcription coactivator activity NAS15572661
    GO:0003723RNA binding IDA12419249
    GO:0004842contributes to ubiquitin-protein ligase activity IDA17349954
         
    BRCA1 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for BRCA1:
     Decreased homologous recombina  Decreased viability of wild-ty  Decreased viability with cispl  Increased G1 DNA content 
     Increased cell death HMECs cel  Synthetic lethal with cisplati  Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 21 alleles(MGI details for Brca1) (see all 23):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 

    BRCA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BRCA1: Brca1tm2.1Cxd Brca1tm1Bhk Brca1tm1Mak Brca1tm1Rfo Brca1tm1.1Brn Brca1tm1Whl
                                                         Brca1tm1Cxd Brca1tm1Arge

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BRCA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BRCA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BRCA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BRCA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target BRCA1:
    hsa-mir-193b-3p (MIRT016496), hsa-mir-21-5p (MIRT030886), hsa-mir-181a-5p (MIRT047335), hsa-mir-99b-3p (MIRT038534), hsa-mir-484 (MIRT042118), hsa-mir-192-5p (MIRT026534), hsa-mir-15a-5p (MIRT003333), hsa-mir-16-5p (MIRT003328), hsa-mir-212-3p (MIRT003967), hsa-mir-186-5p (MIRT044906), hsa-mir-335-5p (MIRT018119), hsa-mir-146a-5p (MIRT001920), hsa-mir-215-5p (MIRT024523), hsa-mir-24-3p (MIRT004836)

    Block miRNA regulation of human, mouse, rat BRCA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRCA1 (see all 30):
    hsa-miR-4291 hsa-miR-3934 hsa-miR-520d-5p hsa-miR-125a-3p hsa-miR-522 hsa-miR-944 hsa-miR-450b-3p hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidBRCA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BRCA1
    Predesigned siRNA for gene silencing in human, mouse, rat BRCA1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BRCA1

    Clone
    Products:
         
    OriGene clones in human, mouse for BRCA1 (see all 36)
    OriGene ORF clones in mouse, rat for BRCA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): BRCA1 (NM_007294)
    Sino Biological Human cDNA Clone for BRCA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRCA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRCA1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BRCA1
    Browse ESI BIO Cell Lines and PureStem Progenitors for BRCA1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRCA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BRCA1_HUMAN, P38398: Nucleus. Chromosome (By similarity). Note=Localizes at sites of DNA damage at double-strand
    breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex
    BRCA1_HUMAN, P38398: Isoform 3: Cytoplasm
    BRCA1_HUMAN, P38398: Isoform 5: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    plasma membrane4
    cytosol2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex NAS14976165
    GO:0000793condensed chromosome ----
    GO:0000794condensed nuclear chromosome ----
    GO:0001726ruffle IDA--
    GO:0005634nucleus IDA17525340

    BRCA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

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    SuperPaths for BRCA1 About   (see all 43)  
    See pathways by source

    SuperPathContained pathways About
    1Homologous Recombination Repair
    Homologous Recombination Repair0.70
    Recruitment of repair and signaling proteins to double-strand breaks0.00
    Double-Strand Break Repair0.70
    Homologous recombination repair of replication-independent double-strand breaks0.00
    ATM mediated response to DNA double-strand break0.31
    ATM mediated phosphorylation of repair proteins0.00
    2Meiosis (REACTOME)
    Meiosis0.74
    Meiotic Recombination0.74
    3Packaging Of Telomere Ends
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62
    4Prostate Cancer
    Prostate Cancer0.32
    Integrated Cancer pathway0.32
    5Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BRCA1 (see all 11)
        BRCA1 Pathway
    Molecular Mechanisms of Cancer
    JAK-STAT Pathway
    Estrogen Pathway
    DNA Damage Induced 14-3-3Sigma Signaling

    2 Cell Signaling Technology (CST) Pathways for BRCA1
        Cell Cycle / Checkpoint Control
    DNA Damage

    Selected GeneGo (Thomson Reuters) Pathways for BRCA1 (see all 8)
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint
    DNA damage NHEJ mechanisms of DSBs repair
    Cell cycle Transition and termination of DNA replication
    Cell cycle Regulation of G1/S transition (part 1)

    Selected BioSystems Pathways for BRCA1 (see all 14)
        DNA damage response
    Integrated Breast Cancer Pathway
    Signaling Pathways in Glioblastoma
    Androgen receptor signaling pathway
    Integrated Pancreatic Cancer Pathway


    5 Reactome Pathways for BRCA1
        Meiotic synapsis
    Recruitment of repair and signaling proteins to double-strand breaks
    Fanconi Anemia pathway
    ATM mediated phosphorylation of repair proteins
    Meiotic recombination


    4 Kegg Pathways  (Kegg details for BRCA1):
        Fanconi anemia pathway
    Ubiquitin mediated proteolysis
    PI3K-Akt signaling pathway
    MicroRNAs in cancer

    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
    Pathway: Protein modification; protein ubiquitination


    BRCA1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BRCA1 (see all 13): 

              Oncogenes & Tumor Suppressor Genes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BRCA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BRCA1 (P383981, 2, 3 ENSP000003502834) via UniProtKB, MINT, STRING, and/or I2D (see all 387) (see top 5)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRIP1Q9BX631, 2, 3, ENSP000002590084EBI-349905,EBI-3509650 MINT-19306 MINT-19307 MINT-5115454 MINT-19369 MINT-5115319 MINT-5115375 MINT-5115552 MINT-19368 MINT-5115303 MINT-5115348 MINT-8141011 MINT-8140834 MINT-8140990 I2D: score=4 STRING: ENSP00000259008
    HIST1H4LP628052, 3, ENSP000003482584MINT-2490745 I2D: score=1 STRING: ENSP00000348258
    HIST1H4AP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4BP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4CP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4DP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4EP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4FP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4HP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4IP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4JP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4KP628052, 3MINT-2490745 I2D: score=1 
    HIST2H4AP628052, 3MINT-2490745 I2D: score=1 
    HIST2H4BP628052, 3MINT-2490745 I2D: score=1 
    HIST4H4P628052, 3MINT-2490745 I2D: score=1 
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    ACACAQ130851, 3, ENSP000003447894EBI-349905,EBI-717681 I2D: score=4 STRING: ENSP00000344789
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    ENSG00000206481Q146763, ENSP000003730604I2D: score=4 STRING: ENSP00000373060
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    ENSG00000225589Q146763I2D: score=4 
    ENSG00000228575Q146763I2D: score=4 
    ENSG00000231135Q146763I2D: score=4 
    ENSG00000234012Q146763I2D: score=4 
    ENSG00000183311P074373I2D: score=1 
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    ENSG00000227739P074373I2D: score=1 
    ENSG00000229684P074373I2D: score=1 
    ENSG00000232421P074373I2D: score=1 
    ENSG00000235067P074373I2D: score=1 
    TUBBP074373I2D: score=1 
    CSNK2BP678703, ENSP000003650254I2D: score=4 STRING: ENSP00000365025
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    ENSG00000224398P678703I2D: score=4 
    ENSG00000228875P678703I2D: score=4 
    ENSG00000230700P678703I2D: score=4 
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    ENSG00000226384Q927593I2D: score=1 
    ENSG00000233149Q927593I2D: score=1 
    ENSG00000234370Q927593I2D: score=1 
    ENSG00000236895Q927593I2D: score=1 
    BRCA2P515872, 3, ENSP000003694974MINT-8361862 MINT-8329389 MINT-8329250 MINT-8329289 I2D: score=5 STRING: ENSP00000369497
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    MORF4L1Q9UBU82, 3, ENSP000003313104MINT-8361862 MINT-8329389 MINT-8329250 MINT-8329289 I2D: score=1 STRING: ENSP00000331310
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    HIST2H3AQ71DI33I2D: score=1 
    HIST2H3DQ71DI33I2D: score=1 
    RBBP8Q997081, 3, ENSP000003230504EBI-349905,EBI-745715 I2D: score=4 STRING: ENSP00000323050
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    UBA52P629873I2D: score=1 
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    XRCC5P130103I2D: score=1 
    BCL2P104151EBI-349905,EBI-77694
    ANAPC1ENSP000003391094STRING: ENSP00000339109
    ANAPC10ENSP000003100714STRING: ENSP00000310071
    ANAPC11ENSP000003499574STRING: ENSP00000349957
    ANAPC13ENSP000003469874STRING: ENSP00000346987
    ANAPC2ENSP000003140044STRING: ENSP00000314004
    ANAPC5ENSP000002618194STRING: ENSP00000261819
    CDC16ENSP000003485544STRING: ENSP00000348554
    CDC23ENSP000003783504STRING: ENSP00000378350
    CDKN1BENSP000002288724STRING: ENSP00000228872
    CENPJENSP000003713084STRING: ENSP00000371308
    CUL7ENSP000002653484STRING: ENSP00000265348
    E2F6ENSP000003709364STRING: ENSP00000370936
    FANCCENSP000002890814STRING: ENSP00000289081
    FANCEENSP000002297694STRING: ENSP00000229769
    FANCFENSP000003308754STRING: ENSP00000330875
    FANCGENSP000003679104STRING: ENSP00000367910
    FANCIENSP000003108424STRING: ENSP00000310842
    FANCLENSP000003850214STRING: ENSP00000385021
    GADD45AENSP000003600254STRING: ENSP00000360025
    LMNB1ENSP000002613664STRING: ENSP00000261366
    MND1ENSP000002404884STRING: ENSP00000240488
    MSH4ENSP000002631874STRING: ENSP00000263187
    PCNAENSP000003684384STRING: ENSP00000368438
    POT1ENSP000003502494STRING: ENSP00000350249
    PSMC3IPENSP000003773844STRING: ENSP00000377384
    RAD21ENSP000002973384STRING: ENSP00000297338
    RAD51CENSP000003367014STRING: ENSP00000336701
    RBX1ENSP000002162254STRING: ENSP00000216225
    RPA3ENSP000002231294STRING: ENSP00000223129
    SMC1BENSP000003500364STRING: ENSP00000350036
    SMC3ENSP000003547204STRING: ENSP00000354720
    SPO11ENSP000003603104STRING: ENSP00000360310
    STAG2ENSP000002180894STRING: ENSP00000218089
    SYCP2ENSP000003501624STRING: ENSP00000350162
    SYCP3ENSP000002667434STRING: ENSP00000266743
    SYNE1ENSP000002653684STRING: ENSP00000265368
    TEX15ENSP000002562464STRING: ENSP00000256246
    TFDP1ENSP000003645194STRING: ENSP00000364519
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 47):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0006260DNA replication ----
    GO:0006281DNA repair TAS--
    GO:0006301postreplication repair IDA17349954
    GO:0006302double-strand break repair TAS--

    BRCA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BRCA1

    Selected Novoseek inferred chemical compound relationships for BRCA1 gene (see all 99)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 70.6 284 18377656 (7), 9655254 (7), 8895509 (5), 17505062 (4) (see all 99)
    tamoxifen 57 61 11710890 (7), 18997820 (6), 11870509 (4), 11130383 (4) (see all 29)
    progesterone 56.7 72 18197009 (4), 16109739 (4), 15816544 (3), 11981002 (2) (see all 42)
    mitomycin c 36.7 20 20174566 (3), 14751517 (3), 11406561 (2), 12007633 (1) (see all 9)
    cisplatin 32.9 95 16165098 (6), 19690636 (6), 19270496 (6), 18402708 (6) (see all 31)
    indole-3-carbinol 30.2 13 16434996 (5), 10868478 (2), 16152627 (1), 19622773 (1) (see all 5)
    docetaxel 21.8 23 18402708 (4), 18591931 (3), 19002265 (3), 11400119 (2) (see all 8)
    paclitaxel 21.5 35 16639080 (5), 12717416 (4), 19697632 (3), 19690636 (3) (see all 18)
    sodium bisulfite 20.9 2 17369979 (1), 15252835 (1)
    camptothecin 18.9 10 12955088 (2), 12007633 (1), 15258697 (1), 9679765 (1) (see all 6)



    BRCA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for BRCA1 gene (12 alternative transcripts): 
    NM_007294.3  NM_007297.3  NM_007298.3  NM_007299.3  NM_007300.3  NM_007295.2  NM_007296.2  NM_007301.2  
    NM_007302.2  NM_007303.2  NM_007305.2  NM_007306.2  

    Unigene Cluster for BRCA1:

    Breast cancer 1, early onset
    Hs.194143  [show with all ESTs]
    Unigene Representative Sequence: NM_007300
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):
    ENST00000357654(uc010whl.2 uc010whm.2 uc002icp.4 uc010whp.2)
    ENST00000468300 ENST00000586385 ENST00000591534 ENST00000591849 ENST00000493795(uc010whq.1)
    ENST00000471181(uc002idc.1 uc010whr.1 uc010cyz.2 uc010cza.2 uc010wht.1)
    ENST00000461221(uc010cyy.1) ENST00000491747 ENST00000484087 ENST00000478531
    ENST00000493919 ENST00000472490 ENST00000487825 ENST00000461574 ENST00000467274(uc002idd.3 uc002ide.1)
    ENST00000412061(uc002icu.3 uc002ict.3 uc002icq.3) ENST00000470026

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BRCA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRCA1 (see all 30):
    hsa-miR-4291 hsa-miR-3934 hsa-miR-520d-5p hsa-miR-125a-3p hsa-miR-522 hsa-miR-944 hsa-miR-450b-3p hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidBRCA1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BRCA1
    Predesigned siRNA for gene silencing in human, mouse, rat BRCA1
    Clone
    Products:
         
    OriGene clones in human, mouse for BRCA1 (see all 36)
    OriGene ORF clones in mouse, rat for BRCA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): BRCA1 (NM_007294)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRCA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRCA1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for BRCA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRCA1
      QuantiTect SYBR Green Assays in human, mouse, rat BRCA1
      QuantiFast Probe-based Assays in human, mouse, rat BRCA1

    Additional mRNA sequence: 

    AB621825.1 AF005068.1 AK293762.1 AK307553.1 AK308084.1 AK316200.1 AY354539.2 AY751490.1 
    BC012577.1 BC030969.1 BC038947.1 BC046142.1 BC062429.1 BC072418.1 BC085615.1 BC106745.1 
    BC106746.1 BC114511.1 BC114562.1 BC115037.1 DQ333386.1 DQ333387.1 DQ363751.1 JN686490.1 
    NR_027676.1 U14680.1 U64805.1 U68041.1 Y08864.1 

    12 DOTS entries:

    DT.313524  DT.91764293  DT.100785659  DT.100785660  DT.100785657  DT.91764294  DT.102831055  DT.120969440 
    DT.86851763  DT.91764295  DT.426829  DT.95149213 

    Selected AceView cDNA sequences (see all 146):

    AL043576 AA486004 AW514868 BC072418 CB158976 BQ683955 BU155689 CB108172 
    BU147444 BM755305 CK822699 U14680 BQ681242 BC030969 BQ422380 CB136844 
    BU617173 BM755214 AU125312 CB155501 AA086435 BM988066 BQ215100 BC046142 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BRCA1 (see all 8)    About this scheme

    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:                                                                                -     -           -     -     -                                             

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


    ECgene alternative splicing isoforms for BRCA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BRCA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BRCA1 Expression
    About this image


    BRCA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Primary Spermatocyte Seminiferous Tubules
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Primordial Germ Cells Primitive Gonad
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    BRCA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BRCA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.194143

    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
    Tissue specificity: Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast
    and ovarian cancer cell lines

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BRCA1 (see all 13): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for BRCA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRCA1
    QuantiTect SYBR Green Assays in human, mouse, rat BRCA1
    QuantiFast Probe-based Assays in human, mouse, rat BRCA1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRCA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for BRCA1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brca11 , 5 breast cancer 11, 5 74.24(n)1
    58.16(a)1
      11 (65.18 cM)5
    121891  NM_009764.31  NP_033894.31 
     1014887645 
    chicken
    (Gallus gallus)
    Aves BRCA11 breast cancer 1, early onset 54.18(n)
    40.73(a)
      373983  NM_204169.1  NP_989500.1 
    lizard
    (Anolis carolinensis)
    Reptilia BRCA16
    breast cancer 1, early onset
    37(a)
    1 ↔ 1
    6(62756363-62838799)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.121052 Xenopus laevis breast and ovarian cancer susceptibility more 79.05(n)    AF416868.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for BRCA1 gene
    10 SIMAP similar genes for BRCA1 using alignment to 67 protein entries:     BRCA1_HUMAN (see all proteins):
    TRIM40    TRIM5    SH3RF1    TRIM31    RAD18    TRIM26
    TRIM60    TRIM22    TRIM50    TRIM39

    BRCA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for BRCA1 (see all 3419)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs288976961,2,,4
    C,F,HBreast cancer (BC)4 untested142006029(-) AATTGA/C/TGGGAG 13 E A mis1 ese33NS NA 4706
    rs562141341,2,,4
    C,FBreast-ovarian cancer, familial, 1 (BROVCA1)4 untested142034059(-) GCTCAC/G/TGGTTA 16 H Q mis1 int11NA 4434
    rs803572721,2,,4
    CBreast cancer (BC)4 untested142034211(-) AGACAC/TCTGAT 11 P S nc-transcript-variantmis1 int11Minor allele frequency- T:0.01EA 120
    rs560463571,2,,4
    CBreast cancer (BC)4 untested142036276(-) ATATTA/TGGGAA 11 L F mis1 int10--------
    rs803572441,2,,4
    CBreast cancer (BC)4 untested142036848(-) TGCATA/C/GTGGAG 16 M L V nc-transcript-variantmis1 int10--------
    rs288976721,2,,4
    COvarian cancer (OC)4 other142048610(-) CACAGC/G/TGTCCT 20 R G C mis1 ese32NA 4
    VAR_0632124
    Breast cancer (BC)4--see VAR_0632122 M K mis40--------
    VAR_0077814
    Breast cancer (BC)4--see VAR_0077812 V A mis40--------
    VAR_0206974
    Breast-ovarian cancer, familial, 1 (BROVCA1)4--see VAR_0206972 R G mis40--------
    VAR_0077564
    Breast cancer (BC)4--see VAR_0077562 L S mis40--------

    HapMap Linkage Disequilibrium report for BRCA1 (41196312 - 41277500 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for BRCA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667044CNV Deletion23128226
    esv2672913CNV Deletion23128226
    esv2715952CNV Deletion23290073
    nsv457743CNV Loss19166990
    nsv470587CNV Loss18288195
    nsv908259CNV Loss21882294
    nsv827999CNV Loss20364138
    esv33998OTHER Inversion15654335

    Human Gene Mutation Database (HGMD): BRCA1
    Locus Specific Mutation Databases (LSDB): BRCA1

    3 Site Specific Mutation Identification with PCR Assays for BRCA1:
    Cosmic IdAA Change
    23943p.V757fs*8
    23941p.?
    13841p.L30F
    SeqTarget long-range PCR primers for resequencing BRCA1
    DNA2.0 Custom Variant and Variant Library Synthesis for BRCA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 113705   
    OMIM disorders: 604370  614320  
    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
  • 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. 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. 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. 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. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for BRCA1 (see all 130):    
    About MalaCards
    hereditary breast ovarian cancer    radiation induced cancer    brca1 hereditary breast and ovarian cancer    primary peritoneal carcinoma
    breast-ovarian cancer, familial, 1    fallopian tube cancer    pancreatic cancer 4    sporadic breast cancer
    cystadenoma    peritonitis    brca1 and brca2 hereditary breast and ovarian cancer    bilateral breast cancer
    brca2 hereditary breast and ovarian cancer    male breast cancer    breast cancer susceptibility    ovarian cystadenoma
    hereditary site-specific ovarian cancer syndrome    familial breast cancer    breast reconstruction    peritoneal carcinoma

    10 diseases from the University of Copenhagen DISEASES database for BRCA1:
    Ovarian cancer     Breast cancer     Fallopian tube cancer     Aplastic anemia
    Autosomal dominant disease     Peritoneal carcinoma     Carcinoma     Ataxia telangiectasia
    Ductal carcinoma in situ     Prostate cancer

    BRCA1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for BRCA1 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian cancer 95.8 2220 10560359 (7), 9796975 (7), 20223018 (7), 10978226 (6) (see all 99)
    breast cancer 93.5 4077 15564800 (9), 20223018 (9), 11710890 (8), 11044354 (8) (see all 99)
    germ-line mutation 91.3 221 17001151 (4), 8875917 (4), 10969800 (3), 16085232 (3) (see all 99)
    prophylactic oophorectomy 90.9 57 15863145 (6), 10469748 (5), 9148160 (3), 12023993 (3) (see all 39)
    bilateral breast cancer 85.2 38 11556836 (3), 10573018 (2), 17557253 (2), 19372713 (2) (see all 25)
    cancer 82.6 997 14966099 (7), 12237281 (5), 10972993 (4), 12237282 (4) (see all 99)
    breast carcinoma 75.1 214 9840533 (5), 9241077 (4), 9699523 (4), 11859870 (3) (see all 99)
    fanconis anemia 74.6 23 12483114 (2), 12967657 (2), 16116421 (2), 15726604 (1) (see all 19)
    tumors 73.4 1603 15868446 (10), 11773283 (8), 10686936 (8), 15712267 (7) (see all 99)
    ovarian carcinoma 72.7 115 10686936 (5), 16284991 (4), 10388472 (3), 9661879 (3) (see all 65)

    Genatlas disease: BRCA1
    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

    GeneTests: BRCA1
    GeneReviews: BRCA1
    Genetic Association Database (GAD): BRCA1
    Human Genome Epidemiology (HuGE) Navigator: BRCA1 (824 documents)
    Tumor Gene Database (TGDB): BRCA1

    Export disorders for BRCA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for BRCA1 gene, integrated from 10 sources (see all 3162):
    (articles sorted by number of sources associating them with BRCA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. (PubMed id 14722926)1, 2, 4, 9 Valarmathi M.T.... Das S.N. (Hum. Mutat. 2004)
    2. One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. (PubMed id 14746861)1, 2, 4, 9 Malander S.... Borg A. (Eur. J. Cancer 2004)
    3. BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. (PubMed id 15365993)1, 2, 4 Seo J.H.... Koo B.H. (Hum. Mutat. 2004)
    4. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. (PubMed id 19241424)1, 4, 9 Hall M.J....Noll W.W. (Cancer 2009)
    5. [BRCA1 and BRCA2 mutations in families studied in the program of genetic counselling in cancer of the Valencian community (Spain)]. (PubMed id 18279628)1, 4, 9 Esteban CardeA+osa E....Salas Trejo D. (Med Clin (Barc) 2008)
    6. Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer. (PubMed id 11556836)1, 4, 9 Steinmann D....DAPrk T. (Br. J. Cancer 2001)
    7. Is there any relationship between BRCA1 gene mutation and pancreatic cancer development? (PubMed id 19140568)1, 4, 9 Lawniczak M....StarzyA8ska T. (Pol. Arch. Med. Wewn. 2008)
    8. Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. (PubMed id 18627636)1, 4, 9 Thirthagiri E....Teo S.H. (Breast Cancer Res. 2008)
    9. Large genomic rearrangement in BRCA1 and BRCA2 and clinical characteristics of men with breast cancer in the United States. (PubMed id 17592676)1, 4, 9 Tchou J....Nathanson K.L. (Clin. Breast Cancer 2007)
    10. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. (PubMed id 17148771)1, 4, 9 Risch H.A....Narod S.A. (J. Natl. Cancer Inst. 2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 672 HGNC: 1100 AceView: BRCA1 Ensembl:ENSG00000012048 euGenes: HUgn672
    ECgene: BRCA1 Kegg: 672 H-InvDB: BRCA1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BRCA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BRCA1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BRCA1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/brca1/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=BRCA1
    Wikipedia http://en.wikipedia.org/wiki/BRCA1

    (Patent information from GeneIP,
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    Patent Information for BRCA1 gene:
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    GeneCards and IP:
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