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Aliases & Descriptions for BRCA1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BRCAI 2 BRCC1 1 , 2 BROVCA1 2 , 5 EC 6.3.2.- 3 IRIS 2 PSCP 2 , 5 RNF53 1 , 2 , 3
Descriptions BRCA1 /BRCA2-containing complex, subunit 1 2 RING finger protein 53 2 , 3 breast and ovarian cancer susceptibility protein 1 2 breast cancer 1, early onset 2
Search outside databases for aliases for BRCA1 genePrevious GC identifers: GC17P062255 GC17M043361 GC17M041105 GC17M041569
Summaries for BRCA1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for BRCA1 : This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, andit also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNAdamage sensors, and signal transducers to form a large multi-subunit protein complex known as theBRCA1 -associated genome surveillance complex (BASC). This gene product associates with RNApolymerase II, and through the C-terminal domain, also interacts with histone deacetylasecomplexes. 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 inheritedbreast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicingplays 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 hasbeen described. A related pseudogene, which is also located on chromosome 17, has been identified.[provided by RefSeq] UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 Function : The BRCA1 -BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNAdamage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Actsby mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function.Plays a central role in DNA repair by facilitating cellular response to DNA repair. Required forappropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase ofthe cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Requiredfor FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibitslipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation
Gene Wiki entry for BRCA1
Genomic Location for BRCA1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the BRCA1 gene Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21-q24 BRCA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17M038450:
(about GC identifiers )
Start:
38,449,840 bp from pter
End:
38,530,994 bp from pter
Size:
81,155 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000017.9 NT_010755.15 Proteins for BRCA1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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 : Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1,MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association couldbe a dynamic process changing throughout the cell cycle and within subnuclear domains. Componentof the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas,BRCC3/BRCC36, BRE/BRCC45 and MERIT40/NBA1. Interacts (via BRCT domains) with FAM175A/Abraxas andRBBP8. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A and COBRA1/NELFB.Interacts (via BRCT domains) with BRIP1. Interacts with FANCD2 (ubiquitinated). Interacts withBAP1. Interacts with DCLRE1C/Artemis and CLSPN. Interacts with H2AFX (phosphorylated on'Ser-140'). Interacts with CHEK1/CHK1. Interacts with BRCC3. Interacts (via BRCT domains) withACACA (phosphorylated); the interaction prevents dephosphorylation of ACACA
Subcellular location : Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks(DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex
Subcellular location : Isoform 3: Cytoplasm
Subcellular location : Isoform 5: Cytoplasm
PDB structures from and Proteopedia : 1JM7 (3D)
 1JNX (3D)
 1N5O (3D)
 1OQA (3D)
 1T15 (3D)
 1T29 (3D)
 1T2U (3D)
 1T2V (3D)
 1Y98 (3D)
 2ING (3D)
 3COJ (3D)
 
Secondary accessions : O15129 Q7KYU9Alternative splicing, Alternative initiation : 5 isoforms : P38398-1 P38398-2 P38398-3 P38398-4 P38398-5
Post-translational modifications:
Phosphorylated in response to IR, UV, and various stimuli that cause checkpoint activation,probably by ATM or ATR1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (11 alternative transcripts):
NP_009225.1 NP_009226.1 NP_009227.1 NP_009228.2 NP_009229.2 NP_009230.2 NP_009231.2 NP_009233.1 NP_009234.1 NP_009235.2 NP_009236.1 ENSEMBL proteins: ENSP00000310938 ENSP00000377285 ENSP00000377288 ENSP00000350283 ENSP00000013772 ENSP00000326002 ENSP00000246907 ENSP00000312236 ENSP00000338007 ENSP00000377294 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8
):
About this table Antibodies for BRCA1: Assays for BRCA1:
Protein
Domains/ Families for BRCA1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P38398 ProtoNet protein and cluster: P38398
3 Blocks protein families : 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 interactionwith the phosphorylated pSXXF motif of FAM175A/Abraxas, recruits BRCA1 at DNA damage sites Domain : The RING-type zinc finger domain interacts with BAP1Similarity : Contains 2 BRCT domainsSimilarity : Contains 1 RING-type zinc finger
Gene Function for BRCA1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Inhib. RNA: Invitrogen RNAi Products for gene knock-down (BRCA1 ) Millipore RNAi Products for the Analysis of BRCA1 Gene knock-down Abnova Chimera RNAi Products for Gene knock-down (BRCA1 )
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 13 ): NM_007294 Applied Biosystems Silencer ® siRNAs for BRCA1 Sigma-Aldrich siRNA and siRNA Panels for BRCA1 Sigma-Aldrich shRNA Panels and shRNA for BRCA1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 11 ): NM_007294                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 11 ): NM_007294                                  untagged cDNA clones in CMV expression vector (see all 12 ): NM_007294  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_007295 UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 Function : The BRCA1 -BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNAdamage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Actsby mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function.Plays a central role in DNA repair by facilitating cellular response to DNA repair. Required forappropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase ofthe cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Requiredfor FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibitslipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation Enzyme Number (IUBMB): EC 6.3.2.-
Genatlas biochemistry entry for BRCA1 :nuclear cell cycle regulated phosphoprotein of breast epithelium,located at the centrosome during Mphase,associating with RAD51 (RECA) at S phase of mitosis,putative negative regulator of cellgrowth (in a RB-dependent fashion),phosphorylated by ATM protein kinase in response to ionizingradiation induced DNA damage,then activating DNA repair through homologous recombination incooperation with BRCA2,RAD51 and RAD52,P-BRCA,also complexing with RNA polymerase IIholoenzyme,may also regulate transcription,recruiting CREBBP and interacting with components ofthe histone deacetylase complex,mediating ubiquitin-conjugating enzyme (E2)-dependentubiquitination through the RING finger domain,induction of BRCA1 triggers JNK/SAPK (MAPK8)dependent apoptosis through induction of DDIT1 (GADD45)
15/17 MGI mutant phenotypes (inferred from 16 alleles ) (MGI details for Brca1 ) (see all 17
):5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
):
About this table
Pathways & Interactions for BRCA1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for BRCA1 (Your Favorite Gene powered by Ingenuity) (see all 8
) UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 Pathway : Protein modification; protein ubiquitination
Gene Network CentralTM Interacting Genes and Proteins Network for BRCA1 5/265 Interacting proteins for BRCA1 (ENSP00000350283 3 P38398 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 265
)About this table 5/23 Gene Ontology (GO) biological process terms (links to tree view) (see all 23
):
About this table
Drugs & Compounds for BRCA1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for BRCA1 10/40 Novoseek chemical compound relationships for BRCA1 gene (see all 40
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
progesterone
53.12
62
18197009 (4), 16109739 (4), 15816544 (3), 11981002 (2) (see all 34 )
alpha-naphthoflavone
13.48
3
10506754 (1), 11191113 (1)
5-methylcytosine
10.76
5
15190129 (1), 12154064 (1), 10954590 (1), 11751682 (1)
bpde
5.15
10
11782367 (3), 11191113 (3), 10506754 (2)
thymidine
5.05
2
9667663 (1), 11103814 (1)
diepoxybutane
4.83
2
17078101 (1)
guanylate
4.53
1
12966421 (1)
selenium
3.95
2
16619485 (1), 15894690 (1)
linoleic acid
3.73
8
10806298 (5)
gold
2.02
2
16825125 (1), 19441445 (1)
About this table
Transcripts for BRCA1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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Inhib. RNA: Invitrogen RNAi Products for gene knock-down (BRCA1 ) Millipore RNAi Products for the Analysis of BRCA1 Gene knock-down Abnova Chimera RNAi Products for Gene knock-down (BRCA1 )
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 13 ): NM_007294 Sigma-Aldrich siRNA and siRNA Panels for BRCA1 Sigma-Aldrich shRNA Panels and shRNA for BRCA1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_007294 NM_007295 NM_007296 NM_007297 NM_007298 NM_007299 NM_007300 NM_007302 NM_007303 NM_007304 NM_007305
REFSEQ mRNAs for BRCA1 gene (11 alternative transcripts): NM_007294.3 NM_007295.2 NM_007296.2 NM_007297.3 NM_007298.3 NM_007299.3 NM_007300.3 NM_007302.2 NM_007303.2 NM_007304.2 NM_007305.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_007294 NM_007295 NM_007296 NM_007297 NM_007298 NM_007299 NM_007300 NM_007302 NM_007303 NM_007304 NM_007305
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 11 ): NM_007294                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 11 ): NM_007294                                  untagged cDNA clones in CMV expression vector (see all 12 ): NM_007294  
Additional cDNA sequence: AF005068.1 AK093551.1 AK293762.1 AK307553.1 AK308084.1 AK311131.1 AK316200.1 AY354539.2 AY751490.1 BC012577.1 BC030969.1 BC038947.1 BC046142.1 BC062429.1 BC072418.1 BC085615.1 BC106745.1 BC106746.1 BC114562.1 BC115036.1 BC115037.1 BC115038.1 U14680.1 U64805.1 U68041.1 Y08864.1
18 DOTS entries : DT.313524 DT.91764293 DT.100785659 DT.100785660 DT.91764294 DT.100785657 DT.426829 DT.102831055 DT.102839953 DT.120910679 DT.120910781 DT.120969440 DT.75119216 DT.86851763 DT.91764295 DT.97813828 DT.120910801 DT.95149213
24/146 AceView cDNA sequences (see all 146
):AW514868 CB158976 BM755214 BQ683955 AA086435 BG257190 CK822699 BU194336 AU125312 AU122476 BM755305 CB155501 BC046142 BC072418 BM988066 AL043576 AA486004 CB136844 BC030969 U14680 CB108172 BG681276 BU617173 BQ676829
highest scoring ESTs for BRCA1 :U14680 AA205474 AF005068 AL701927 AL704228 AU098869 BC012577 BC030969 BC072418 BG257190
Unigene Cluster for BRCA1: Breast cancer 1, early onset Hs.194143 [show with all ESTs ] Unigene Representative Sequence: NM_007295 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for BRCA1 (see all 8
) 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 : -                
About this scheme ECgene alternative splicing isoforms for BRCA1 10 Ensembl transcripts including schematic representations : ENST00000309486
ENST00000393680
ENST00000393683
ENST00000357654
ENST00000353540
ENST00000354071
ENST00000346315
ENST00000352993
ENST00000351666
ENST00000393691
Expression for BRCA1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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BRCA1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for BRCA1 1 / 2 / 3
8 probe-sets matching BRCA1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.194143 Expression variation in blood from EXPOLDB for BRCA1
UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 Tissue specificity : Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent inseveral breast and ovarian cancer cell lines
Orthologs for BRCA1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for BRCA1 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for BRCA1 ENSEMBL Gene Tree for BRCA1 Paralogs for BRCA1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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--
SNPs/Variants for BRCA1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 Polymorphism : There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Propolymorphisms may be associated with an increased risk for developing ovarian cancer
HapMap Linkage Disequilibrium images for BRCA1 (up to first 250kb)
Disorders & Mutations for BRCA1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 113705 disorders : 604370 UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
Defects in BRCA1 are a cause of genetic susceptibility to breast cancer (BC) [MIM:113705,114480]. BC is an extremely common malignancy, affecting one in eight women during their lifetime.A positive family history has been identified as major contributor to risk of development of thedisease, and this link is striking for early-onset breast cancer. Mutations in BRCA1 are thoughtto be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-foldincreased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostatecancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination Defects in BRCA1 are a cause of susceptibility to familial breast-ovarian cancer type 1(BROVCA1) [MIM:604370]. Mutations in BRCA1 are thought to be responsible for more than 80% ofinherited breast-ovarian cancer Defects in BRCA1 are a cause of genetic susceptibility to ovarian cancer [MIM:113705]
10/95 Novoseek disease relationships for BRCA1 gene (see all 95
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
ovarian cancer
95.82
2056
10560359 (7), 9796975 (7), 10978226 (6), 17196508 (6) (see all 99 )
breast cancer
93.39
3648
15564800 (9), 11710890 (8), 11044354 (8), 17557253 (8) (see all 99 )
germ-line mutation
91.29
213
17001151 (4), 8875917 (4), 10969800 (3), 16085232 (3) (see all 99 )
prophylactic oophorectomy
90.93
56
15863145 (6), 10469748 (5), 9148160 (3), 12023993 (3) (see all 38 )
bilateral breast cancer
85.31
34
11556836 (3), 10573018 (2), 17557253 (2), 19372713 (2) (see all 21 )
cancer
82.18
906
14966099 (7), 12237281 (5), 10972993 (4), 12237282 (4) (see all 99 )
breast carcinoma
74.51
206
9840533 (5), 9241077 (4), 9699523 (4), 11859870 (3) (see all 99 )
fanconis anemia
73.47
22
12483114 (2), 12967657 (2), 16116421 (2), 15726604 (1) (see all 18 )
ovarian carcinoma
72.80
104
10686936 (5), 16284991 (4), 10388472 (3), 9661879 (3) (see all 61 )
tumors
72.42
1433
15868446 (10), 11773283 (8), 10686936 (8), 15712267 (7) (see all 99 )
About this table Genatlas disease: BRCA1 breast carcinoma,early onset,high tumor grade,negative estrogen and progesterone receptorstatus,and high proliferative rate,breast ovarian cancer family,familial site-specific ovariancancer,Lynch syndrome II (see TSG17B),excluding familial male breast cancer,including early onsetgastric carcinoma,not frequently prostate carcinomas GeneTests: BRCA1 BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer Human Gene Mutation Database : BRCA1 Genetic Association Database: BRCA1 Human Genome Epidemiology Navigator: BRCA1 (603 documents) Tumor Gene Database : BRCA1 Breast Cancer Gene Database : BRCA1
Medical News for BRCA1 (Possibly Related Articles in
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Publications for BRCA1 (in
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100/2187 PubMed articles for BRCA1 gene (see all 2187
): 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, 3, 4, 6 Malander S.... Borg A. (2004) A comprehensive model for familial breast cancer incorporating BRCA1 , BRCA2 and other genes. (PubMed id 11857015) 1, 3, 6 Antoniou A.C....Easton D.F. (2002) [Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai] (PubMed id 16324400) 1, 3, 6 Song C.G....Shao Z.M. (2005) Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. (PubMed id 14722926) 1, 3, 4 Valarmathi M.T.... Das S.N. (2004) Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1 . (PubMed id 15256476) 1, 3, 6 Bau D.T....Shen C.Y. (2004) Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress. (PubMed id 11114888) 1, 3, 4 Tibbetts R.S.... Abraham R.T. (2000) [Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people] (PubMed id 15059511) 1, 3, 6 Zhou Y.Z....Fang F.D. (2004) A combined analysis of outcome following breast cancer: differences in survival based on BRCA1 /BRCA2 mutation status and administration of adjuvant treatment. (PubMed id 14680495) 1, 3, 6 Robson M.E....Foulkes W.D. (2004) BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. (PubMed id 11301010) 1, 3, 4 Cantor S.B....Livingston D.M. (2001) [Population genetic analysis of the association between the BRCA1 and P53 gene polymorphisms and the risk of sporadic breast cancer] (PubMed id 16161633) 1, 3, 6 Tarasov V.A....Mel'nik V.A. (2005) High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. (PubMed id 9609997) 1, 3, 4 Katagiri T.... Miki Y. (1998) BRCA1 , BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. (PubMed id 14507240) 1, 3, 6 Rajkumar T....Shanta V. (2003) A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. (PubMed id 9760198) 1, 3, 4 Dong J....Royer-Pokora B. (1998) Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. (PubMed id 8776600) 1, 3, 4 Durocher F.... Simard J. (1996) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 . (PubMed id 7545954) 1, 3, 4 Miki Y.... Skolnick M.H. (1994) BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase. (PubMed id 16326698) 1, 3, 4 Moreau K.... Venezia N.D. (2006) Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. (PubMed id 14709740) 1, 3, 6 Kirchhoff T....Offit K. (2004) BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer. (PubMed id 14709734) 1, 3, 6 Niell B.L....Gruber S.B. (2004) Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both. (PubMed id 12928470) 1, 3, 6 de la Hoya M....Caldes T. (2003) The Norwegian founder mutations in BRCA1 : high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer. (PubMed id 14522380) 1, 3, 6 Heimdal K....Moller P. (2003) A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. (PubMed id 11248061) 1, 3, 6 Levy-Lahad E....Gershoni-Baruch R. (2001) BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype. (PubMed id 8968716) 1, 3, 4 Barker D.F.... Anton-Culver H. (1996) A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. (PubMed id 8554067) 1, 3, 4 Serova O.... Lenoir G.M. (1996) Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. (PubMed id 17525340) 1, 3, 4 Wang B....Elledge S.J. (2007) Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. (PubMed id 15726604) 1, 3, 6 Koren-Michowitz M....Amariglio N. (2005) A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers. (PubMed id 15138485) 1, 3, 6 Kadouri L....Peretz T. (2004) Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. (PubMed id 15113441) 1, 3, 6 Sigurdson A.J....Struewing J.P. (2004) Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair. (PubMed id 14636569) 1, 3, 4 Dong Y....Shiekhattar R. (2003) Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland. (PubMed id 12750242) 1, 3, 6 Jakubowska A....Lubinski J. (2003) BRCA1 -independent ubiquitination of FANCD2. (PubMed id 12887909) 1, 3, 4 Vandenberg C.J....Patel K.J. (2003) BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage. (PubMed id 11836499) 1, 3, 4 Yarden R.I.... Brody L.C. (2002) BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. (PubMed id 12360400) 1, 3, 4 Magnard C.... Venezia N.D. (2002) Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives. (PubMed id 11668223) 1, 3, 6 Runnebaum I.B....Narod S.A. (2001) A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1 /2 mutation carriers. (PubMed id 11535547) 1, 3, 6 Wang W.W.... Struewing J.P. (2001) Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. (PubMed id 11239454) 1, 3, 4 Garcia-Higuera I.... D'Andrea A.D. (2001) [Clinical and pathological characteristics and clinical course of patients with breast cancer and BRCA1 /BRCA2 mutations] (PubMed id 11481082) 1, 3, 6 Pericay C....Alonso C. (2001) A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families. (PubMed id 11192759) 1, 3, 6 Machackova E....Messiaen L. (2000) BASC, a super complex of BRCA1 -associated proteins involved in the recognition and repair of aberrant DNA structures. (PubMed id 10783165) 1, 3, 4 Wang Y.... Qin J. (2000) Localization of BRCA1 and a splice variant identifies the nuclear localization signal. (PubMed id 8972225) 1, 3, 4 Thakur S....Weber B.L. (1997) Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1 . (PubMed id 8938427) 1, 3, 4 Smith T.M....King M.C. (1996) Mutations in the BRCA1 gene in Japanese breast cancer patients. (PubMed id 8723683) 1, 3, 4 Katagiri T.... Nakamura Y. (1996) MERIT40 controls BRCA1 -Rap80 complex integrity and recruitment to DNA double-strand breaks. (PubMed id 19261746) 3, 4 Shao G.... Greenberg R.A. (2009) NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control. (PubMed id 19261749) 3, 4 Wang B.... Elledge S.J. (2009) MERIT40 facilitates BRCA1 localization and DNA damage repair. (PubMed id 19261748) 3, 4 Feng L.... Chen J. (2009) ACCA phosphopeptide recognition by the BRCT repeats of BRCA1 . (PubMed id 16698035) 3, 4 Ray H.... Venezia N.D. (2006) A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk. (PubMed id 16103107) 3, 6 Freedman M.L....Haiman C.A. (2005) Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene. (PubMed id 15900600) 3, 6 Hughes D.J....Sinilnikova O.M. (2005) Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. (PubMed id 16049805) 3, 6 Kotsopoulos J....Narod S.A. (2005) Polyglutamine repeat length in the AIB1 gene modifies breast cancer susceptibility in BRCA1 carriers. (PubMed id 14648706) 3, 6 Kadouri L....Eeles R.A. (2004) Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain. (PubMed id 14729053) 3, 6 Rodriguez J.A....Henderson B.R. (2004) Loss of heterozygosity in normal breast epithelial tissue and benign breast lesions in BRCA1 /2 carriers with breast cancer. (PubMed id 15104281) 3, 6 Cavalli L.R....Haddad B.R. (2004) BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. (PubMed id 15026808) 3, 4 Claes K.... Messiaen L. (2004) A gene-environment interaction between occupation and BRCA1 /BRCA2 mutations in male breast cancer? (PubMed id 15519522) 3, 6 Palli D....Ottini L. (2004) Human claspin works with BRCA1 to both positively and negatively regulate cell proliferation. (PubMed id 15096610) 3, 4 Lin S.-Y.... Elledge S.J. (2004) Accommodating risk: responses to BRCA1 /2 genetic testing of women who have had cancer. (PubMed id 15144764) 3, 6 Hallowell N....Watson M. (2004) [Analysis of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives.] (PubMed id 15777502) 3, 6 Hu Z....Shao Z.M. (2004) BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. (PubMed id 15365993) 3, 4 Seo J.H.... Koo B.H. (2004) Long-term psychological impact of carrying a BRCA1 /2 mutation and prophylactic surgery: a 5-year follow-up study. (PubMed id 14551306) 3, 6 van Oostrom I....Tibben A. (2003) Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. (PubMed id 12938098) 3, 4 Meyer P.... Klaes R. (2003) Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1 /BRCA2 mutation testing. (PubMed id 14581427) 3, 6 Schwartz M.D....Lerman C. (2003) Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study. (PubMed id 12865453) 3, 6 Rutter J.L....Hartge P. (2003) BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. (PubMed id 12442274) 3, 4 Zhi X.... Shi Y.-R. (2002) Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1 /2 mutation carriers: association with breast/ovarian cancer phenotype. (PubMed id 12404104) 3, 6 Dagan E....Gershoni-Baruch R. (2002) [Analysis of mutation sites of BRCA1 gene in Chinese patients with breast cancer] (PubMed id 12362311) 3, 6 Ke Y....Lu D. (2002) [Frequency of the 185delAG mutation in the BRCA1 gene in Chilean healthy women with family history of breast cancer] (PubMed id 12491828) 3, 6 Jara L....Ojeda J.M. (2002) BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. (PubMed id 12442275) 3, 4 Ruiz-Flores P....Barrera-Saldana H.A. (2002) [Investigation of mutations of BRCA1 and BRCA2 genes in 52 breast cancer patients] (PubMed id 12101561) 3, 6 Tereshchenko I.V....Shagiakhmetova R.A. (2002) Characterization of common BRCA1 and BRCA2 variants. (PubMed id 12215251) 3, 4 Deffenbaugh A.M....Neuhausen S.L. (2002) All in the family: evaluation of the process and content of sisters' communication about BRCA1 and BRCA2 genetic test results. (PubMed id 11807889) 3, 6 Hughes C....Main D. (2002) Phosphorylation of serine 1387 in BRCA1 is specifically required for the Atm-mediated S-phase checkpoint after ionizing irradiation. (PubMed id 12183412) 3, 4 Xu B.... Kastan M.B. (2002) BRCA1 -induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. (PubMed id 11739404) 3, 4 Ye Q.... Li R. (2001) An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling. (PubMed id 11073541) 3, 6 Metcalfe K.A....Narod S.A. (2000) Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. (PubMed id 10323242) 3, 4 Li S.S.-L.... Tsai J.-H. (1999) The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. (PubMed id 10486320) 3, 4 Gayther S.A....Ponder B.A.J. (1999) Germline BRCA1 alterations in a population-based series of ovarian cancer cases. (PubMed id 10196379) 3, 4 Janezic S.A.... Anton-Culver H. (1999) BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1 -mediated cell growth suppression. (PubMed id 9528852) 3, 4 Jensen D.E.... Rauscher F.J. III (1998) Characterization of a carboxy-terminal BRCA1 interacting protein. (PubMed id 9811458) 3, 4 Wong A.K....Bartel P.L. (1998) Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening. (PubMed id 9482581) 3, 4 Andersen T.I.... Boerresen-Dale A.-L. (1998) Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCA1 -delta11b. (PubMed id 9010228) 3, 4 Wilson C.A.... Calzone F.J. (1997) Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1 ) gene. (PubMed id 8807330) 3, 4 Couch F.J. and Weber B.L. (1996) Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. (PubMed id 7894491) 3, 4 Castilla L.H.... Weber B.L. (1994) BRCA1 mutations in primary breast and ovarian carcinomas. (PubMed id 7939630) 3, 4 Futreal P.A.... Wiseman R. (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. (PubMed id 7894493) 3, 4 Friedman L.S.... King M.-C. (1994) Extracellular matrix enhances heregulin-dependent BRCA1 phosphorylation and suppresses BRCA1 expression through its C terminus. (PubMed id 12509456) 1, 3 Miralem T. and Avraham H.K. (2003) BRCA1 and implications for response to chemotherapy in ovarian cancer. (PubMed id 19168207) 1, 3 Quinn J.E....Harkin D.P. (2009) Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities. (PubMed id 18208621) 1, 3 Press J.Z....Huntsman D.G. (2008) Inactivation of BRCA1 and BRCA2 in ovarian cancer. (PubMed id 12237285) 1, 3 Hilton J.L....Buller R.E. (2002) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. (PubMed id 11044354) 1, 3 (2000) BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. (PubMed id 19241424) 1, 3 Hall M.J....Noll W.W. (2009) [BRCA1 and BRCA2 mutations in families studied in the program of genetic counselling in cancer of the Valencian community (Spain)] (PubMed id 18279628) 1, 3 Esteban Cardenosa E....Salas Trejo D. (2008) Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. (PubMed id 17196508) 1, 3 McLaughlin J.R....Narod S.A. (2007) Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer. (PubMed id 11556836) 1, 3 Steinmann D....Dork T. (2001) Phosphatidylinositol 3-kinase/Akt signaling enhances nuclear localization and transcriptional activity of BRCA1 . (PubMed id 17428466) 1, 3 Hinton C.V....Thompson M.E. (2007) Regulation of BRCA1 phosphorylation by interaction with protein phosphatase 1alpha. (PubMed id 12438214) 1, 3 Liu Y....Hsu L.C. (2002) Tumor suppressor BRCA1 is expressed in prostate cancer and controls insulin-like growth factor I receptor (IGF-IR) gene transcription in an androgen receptor-dependent manner. (PubMed id 19223505) 1, 3 Schayek H....Werner H. (2009) Is there any relationship between BRCA1 gene mutation and pancreatic cancer development? (PubMed id 19140568) 1, 3 Lawniczak M....StarzyA8ska T. (2008) 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, 3 Thirthagiri E....Teo S.H. (2008) Involvement of a specificity proteins-binding element in regulation of basal and estrogen-induced transcription activity of the BRCA1 gene. (PubMed id 18377656) 1, 3 Hockings J.K....Romagnolo D.F. (2008) Large genomic rearrangement in BRCA1 and BRCA2 and clinical characteristics of men with breast cancer in the United States. (PubMed id 17592676) 1, 3 Tchou J....Nathanson K.L. (2007) Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. (PubMed id 17148771) 1, 3 Risch H.A....Narod S.A. (2006)
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