Details for: BRCA2

Gene ID: 675

Symbol: BRCA2

Ensembl ID: ENSG00000139618

Description: BRCA2 DNA repair associated

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 1.59
    Marker Score: 571
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169246
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.47
    Marker Score: 2109
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.15
    Marker Score: 332
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.12
    Marker Score: 2286
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251763
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71782
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48006
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.98
    Marker Score: 667
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 488
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 442
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.91
    Marker Score: 2475
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2724
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5053
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.85
    Marker Score: 1066
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.84
    Marker Score: 631
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1254
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.77
    Marker Score: 2289
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.77
    Marker Score: 1457
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.75
    Marker Score: 907
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.74
    Marker Score: 237
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 380
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 292
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 549
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.72
    Marker Score: 723
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.7
    Marker Score: 1189
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.69
    Marker Score: 10748
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 624
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.66
    Marker Score: 878
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.65
    Marker Score: 2709
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.64
    Marker Score: 600
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.63
    Marker Score: 201
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.6
    Marker Score: 360
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.6
    Marker Score: 148
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.59
    Marker Score: 290
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.59
    Marker Score: 429
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.56
    Marker Score: 276
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.55
    Marker Score: 230
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.54
    Marker Score: 142
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.51
    Marker Score: 327.5
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.5
    Marker Score: 1861
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.5
    Marker Score: 1177
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.49
    Marker Score: 324
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.48
    Marker Score: 308
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.48
    Marker Score: 508
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.48
    Marker Score: 131
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.47
    Marker Score: 532
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.47
    Marker Score: 261
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.46
    Marker Score: 293
  • Cell Name: pre-conventional dendritic cell (CL0002010)
    Fold Change: 0.46
    Marker Score: 135
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.45
    Marker Score: 284
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.45
    Marker Score: 1759
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.45
    Marker Score: 416
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.43
    Marker Score: 1673
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.42
    Marker Score: 111
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.42
    Marker Score: 436
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.41
    Marker Score: 302
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.41
    Marker Score: 204
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.4
    Marker Score: 128
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 389
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.4
    Marker Score: 331
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.4
    Marker Score: 646
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.4
    Marker Score: 273
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.4
    Marker Score: 190
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.39
    Marker Score: 410
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.38
    Marker Score: 2310
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.38
    Marker Score: 1561
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.38
    Marker Score: 118
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.38
    Marker Score: 1567
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.38
    Marker Score: 157
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.37
    Marker Score: 412
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.37
    Marker Score: 249
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.36
    Marker Score: 172
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.35
    Marker Score: 8944
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.34
    Marker Score: 340
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.33
    Marker Score: 169
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.33
    Marker Score: 783
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.33
    Marker Score: 235
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.33
    Marker Score: 99
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.33
    Marker Score: 187
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.32
    Marker Score: 111
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.32
    Marker Score: 273
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.31
    Marker Score: 110
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.3
    Marker Score: 208
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.3
    Marker Score: 111
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.3
    Marker Score: 146
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.3
    Marker Score: 75
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.3
    Marker Score: 103
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.29
    Marker Score: 66
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.29
    Marker Score: 64
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.29
    Marker Score: 82
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.29
    Marker Score: 258
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.29
    Marker Score: 290
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.29
    Marker Score: 56

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Other Information

**Key characteristics** - BRCA2 is a helicase protein that plays a central role in DNA repair by participating in homologous recombination (HR) pathways. - It is a key component of the BRCA2 protein complex, which is responsible for repairing DNA damage caused by ionizing agents, viruses, and other DNA-damaging agents. - BRCA2 is highly expressed in cells that are particularly susceptible to DNA damage, such as cells of the gut, germ cells, and cells of the reproductive tract. **Pathways and functions** BRCA2 participates in two main HR pathways: - **Homologous recombination repair (HRR)**: BRCA2 is responsible for repairing DSBs through the HR pathway, which is initiated by the detection of DNA damage by the DNA damage response (DDR). - **Single-strand annealing (SSA)**: BRCA2 can also repair DSBs through the SSA pathway, which is initiated by the binding of the protein BRCA4 to single-stranded DNA breaks. BRCA2 loss of function can lead to impaired DNA repair, which can increase the risk of developing cancer. This is because DSBs can go unrepaired, leading to cell death or the development of cancer cells. **Clinical significance** Mutations in BRCA2 are responsible for a significant proportion of human cancers. As such, BRCA2 is a promising target for cancer therapy. Several drugs that block BRCA2 have been shown to be effective in treating breast cancer and other cancers that are caused by BRCA2 mutations. **Conclusion** BRCA2 is a critical protein for DNA repair in cells. Mutations in BRCA2 are associated with an increased risk of certain types of cancer. BRCA2 inhibitors are a promising new class of cancer drugs that are being investigated as a treatment for BRCA2-deficient cancers.

Genular Protein ID: 3170352010

Symbol: BRCA2_HUMAN

Name: Fanconi anemia group D1 protein

UniProtKB Accession Codes:

P51587 O00183 O15008 Q13879 Q5TBJ7

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CORUM 1 CPTAC 2 CTD 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 32 EMDB 2 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 45 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 13 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 10 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 8 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 14 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8524414

Title: Identification of the breast cancer susceptibility gene BRCA2.

PubMed ID: 8524414

DOI: 10.1038/378789a0

PubMed ID: 8589730

Title: The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

PubMed ID: 8589730

DOI: 10.1038/ng0396-333

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 9140390

Title: Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients.

PubMed ID: 9140390

DOI: 10.1038/ng0597-17

PubMed ID: 10373512

Title: Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals.

PubMed ID: 10373512

DOI: 10.1128/mcb.19.7.4633

PubMed ID: 15115758

Title: Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways.

PubMed ID: 15115758

DOI: 10.1093/hmg/ddh135

PubMed ID: 15199141

Title: Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin.

PubMed ID: 15199141

DOI: 10.1128/mcb.24.13.5850-5862.2004

PubMed ID: 15314155

Title: BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage.

PubMed ID: 15314155

DOI: 10.1128/mcb.24.17.7444-7455.2004

PubMed ID: 15689453

Title: Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

PubMed ID: 15689453

DOI: 10.1136/jmg.2004.022673

PubMed ID: 15671039

Title: FANCD2 functions independently of BRCA2 and RAD51 associated homologous recombination in response to DNA damage.

PubMed ID: 15671039

DOI: 10.1074/jbc.m414669200

PubMed ID: 15800615

Title: CDK-dependent phosphorylation of BRCA2 as a regulatory mechanism for recombinational repair.

PubMed ID: 15800615

DOI: 10.1038/nature03404

PubMed ID: 15967112

Title: WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation.

PubMed ID: 15967112

DOI: 10.1593/neo.04544

PubMed ID: 16793542

Title: Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

PubMed ID: 16793542

DOI: 10.1016/j.molcel.2006.05.022

PubMed ID: 16205630

Title: DSS1 is required for the stability of BRCA2.

PubMed ID: 16205630

DOI: 10.1038/sj.onc.1209153

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18212739

Title: FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.

PubMed ID: 18212739

DOI: 10.1038/sj.onc.1211034

PubMed ID: 18317453

Title: The checkpoint kinases Chk1 and Chk2 regulate the functional associations between hBRCA2 and Rad51 in response to DNA damage.

PubMed ID: 18317453

DOI: 10.1038/onc.2008.17

PubMed ID: 19369211

Title: PALB2 is an integral component of the BRCA complex required for homologous recombination repair.

PubMed ID: 19369211

DOI: 10.1073/pnas.0811159106

PubMed ID: 20729859

Title: Human BRCA2 protein promotes RAD51 filament formation on RPA-covered single-stranded DNA.

PubMed ID: 20729859

DOI: 10.1038/nsmb.1904

PubMed ID: 20729858

Title: The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNA.

PubMed ID: 20729858

DOI: 10.1038/nsmb.1905

PubMed ID: 20729832

Title: Purified human BRCA2 stimulates RAD51-mediated recombination.

PubMed ID: 20729832

DOI: 10.1038/nature09399

PubMed ID: 21084279

Title: BRCA2 and nucleophosmin coregulate centrosome amplification and form a complex with the Rho effector kinase ROCK2.

PubMed ID: 21084279

DOI: 10.1158/0008-5472.can-10-0030

PubMed ID: 21276791

Title: Homologous recombination proteins are associated with centrosomes and are required for mitotic stability.

PubMed ID: 21276791

DOI: 10.1016/j.yexcr.2011.01.021

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24013206

Title: A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization.

PubMed ID: 24013206

DOI: 10.1038/nsmb.2666

PubMed ID: 24141787

Title: Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

PubMed ID: 24141787

DOI: 10.1038/onc.2013.421

PubMed ID: 24485656

Title: Breast cancer proteins PALB2 and BRCA2 stimulate polymerase eta in recombination-associated DNA synthesis at blocked replication forks.

PubMed ID: 24485656

DOI: 10.1016/j.celrep.2014.01.009

PubMed ID: 24896180

Title: BRCA2 prevents R-loop accumulation and associates with TREX-2 mRNA export factor PCID2.

PubMed ID: 24896180

DOI: 10.1038/nature13374

PubMed ID: 26833090

Title: Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability.

PubMed ID: 26833090

DOI: 10.1016/j.molcel.2015.12.026

PubMed ID: 28319063

Title: Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.

PubMed ID: 28319063

DOI: 10.1038/onc.2017.46

PubMed ID: 31242413

Title: HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis.

PubMed ID: 31242413

DOI: 10.1016/j.celrep.2019.05.096

PubMed ID: 12442171

Title: Insights into DNA recombination from the structure of a RAD51-BRCA2 complex.

PubMed ID: 12442171

DOI: 10.1038/nature01230

PubMed ID: 19609323

Title: Structural basis for recruitment of BRCA2 by PALB2.

PubMed ID: 19609323

DOI: 10.1038/embor.2009.126

PubMed ID: 8665505

Title: Mutations of the BRCA2 gene in ovarian carcinomas.

PubMed ID: 8665505

PubMed ID: 8673091

Title: BRCA2 germline mutations in male breast cancer cases and breast cancer families.

PubMed ID: 8673091

DOI: 10.1038/ng0596-123

PubMed ID: 8640235

Title: BRCA2 mutations in primary breast and ovarian cancers.

PubMed ID: 8640235

DOI: 10.1038/ng0696-238

PubMed ID: 8640236

Title: Low incidence of BRCA2 mutations in breast carcinoma and other cancers.

PubMed ID: 8640236

DOI: 10.1038/ng0696-241

PubMed ID: 8640237

Title: Mutation analysis in the BRCA2 gene in primary breast cancers.

PubMed ID: 8640237

DOI: 10.1038/ng0696-245

PubMed ID: 9150152

Title: A low proportion of BRCA2 mutations in Finnish breast cancer families.

PubMed ID: 9150152

PubMed ID: 9654203

Title: High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families.

PubMed ID: 9654203

DOI: 10.1007/s004390050738

PubMed ID: 9609997

Title: High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

PubMed ID: 9609997

DOI: 10.1007/s100380050035

PubMed ID: 10486320

Title: The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

PubMed ID: 10486320

DOI: 10.1086/302583

PubMed ID: 10323242

Title: Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

PubMed ID: 10323242

DOI: 10.1007/s004390050936

PubMed ID: 9971877

Title: Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.

PubMed ID: 9971877

DOI: 10.1093/hmg/8.3.413

PubMed ID: 10399947

Title: Germline brca2 sequence variants in patients with ocular melanoma.

PubMed ID: 10399947

DOI: 10.1002/(sici)1097-0215(19990730)82:3<325::aid-ijc3>3.0.co;2-g

PubMed ID: 11062481

Title: A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.

PubMed ID: 11062481

DOI: 10.1038/81691

PubMed ID: 10978364

Title: BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.

PubMed ID: 10978364

DOI: 10.1136/jmg.37.9.e17

PubMed ID: 11139248

Title: BRCA2 germline mutations in male breast cancer patients in the Polish population.

PubMed ID: 11139248

DOI: 10.1002/1098-1004(2001)17:1<73::aid-humu12>3.0.co;2-o

PubMed ID: 11241844

Title: An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).

PubMed ID: 11241844

DOI: 10.1002/humu.7

PubMed ID: 11149425

Title: Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.

PubMed ID: 11149425

DOI: 10.1002/1097-0215(20010101)91:1<83::aid-ijc1013>3.0.co;2-5

PubMed ID: 12145750

Title: BRCA2 T2722R is a deleterious allele that causes exon skipping.

PubMed ID: 12145750

DOI: 10.1086/342192

PubMed ID: 12373604

Title: BRCA2 gene mutations in families with aggregations of breast and stomach cancers.

PubMed ID: 12373604

DOI: 10.1038/sj.bjc.6600562

PubMed ID: 12097290

Title: Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%.

PubMed ID: 12097290

PubMed ID: 11948123

Title: Infrequent mutation in the BRCA2 gene in esophageal squamous cell carcinoma.

PubMed ID: 11948123

PubMed ID: 12215251

Title: Characterization of common BRCA1 and BRCA2 variants.

PubMed ID: 12215251

DOI: 10.1089/10906570260199375

PubMed ID: 12442273

Title: BRCA1 and BRCA2 in Indian breast cancer patients.

PubMed ID: 12442273

DOI: 10.1002/humu.9082

PubMed ID: 12442274

Title: BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.

PubMed ID: 12442274

DOI: 10.1002/humu.9083

PubMed ID: 12442275

Title: BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

PubMed ID: 12442275

DOI: 10.1002/humu.9084

PubMed ID: 11948477

Title: Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer.

PubMed ID: 11948477

DOI: 10.1002/ijc.10289

PubMed ID: 12065746

Title: Biallelic inactivation of BRCA2 in Fanconi anemia.

PubMed ID: 12065746

DOI: 10.1126/science.1073834

PubMed ID: 12552570

Title: BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.

PubMed ID: 12552570

DOI: 10.1002/humu.9110

PubMed ID: 12938098

Title: Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PubMed ID: 12938098

DOI: 10.1002/humu.9174

PubMed ID: 12624724

Title: Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer.

PubMed ID: 12624724

DOI: 10.1007/s100380300020

PubMed ID: 12569143

Title: BRCA2 germline mutations in familial pancreatic carcinoma.

PubMed ID: 12569143

DOI: 10.1093/jnci/95.3.214

PubMed ID: 14670928

Title: Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

PubMed ID: 14670928

DOI: 10.1182/blood-2003-06-1970

PubMed ID: 15026808

Title: BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

PubMed ID: 15026808

DOI: 10.1038/sj.bjc.6601656

PubMed ID: 15172753

Title: Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

PubMed ID: 15172753

DOI: 10.1016/j.cancergencyto.2003.09.020

PubMed ID: 14746861

Title: One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden.

PubMed ID: 14746861

DOI: 10.1016/j.ejca.2003.09.016

PubMed ID: 14722926

Title: Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PubMed ID: 14722926

DOI: 10.1002/humu.9213

PubMed ID: 15300854

Title: RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

PubMed ID: 15300854

DOI: 10.1002/humu.9267

PubMed ID: 15365993

Title: BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

PubMed ID: 15365993

DOI: 10.1002/humu.9275

PubMed ID: 15635067

Title: Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases.

PubMed ID: 15635067

DOI: 10.1136/jmg.2004.025056

PubMed ID: 17924331

Title: A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

PubMed ID: 17924331

DOI: 10.1086/521032

PubMed ID: 16825431

Title: Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PubMed ID: 16825431

DOI: 10.1136/jmg.2006.043257

PubMed ID: 20513136

Title: Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

PubMed ID: 20513136

DOI: 10.1002/humu.21267

PubMed ID: 21719596

Title: A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PubMed ID: 21719596

DOI: 10.1182/blood-2010-12-324541

PubMed ID: 23108138

Title: A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

PubMed ID: 23108138

DOI: 10.1158/0008-5472.can-12-2081

PubMed ID: 26566883

Title: Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.

PubMed ID: 26566883

DOI: 10.1136/jmedgenet-2015-103179

PubMed ID: 29753700

Title: Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

PubMed ID: 29753700

DOI: 10.1016/s1470-2045(18)30242-0

Sequence Information:

  • Length: 3418
  • Mass: 384230
  • Checksum: 98A48F16848D2644
  • Sequence:
    • MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN 
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV 
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI 
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL 
KKNDRFIASV TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV 
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE KYSFVSEVEP 
NDTDPLDSNV ANQKPFESGS DKISKEVVPS LACEWSQLTL SGLNGAQMEK IPLLHISSCD 
QNISEKDLLD TENKRKKDFL TSENSLPRIS SLPKSEKPLN EETVVNKRDE EQHLESHTDC 
ILAVKQAISG TSPVASSFQG IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL 
EIHTVCSQKE DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY 
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN DSEEPTLSLT 
SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL FITPEADSLS CLQEGQCEND 
PKSKKVSDIK EEVLAAACHP VQHSKVEYSD TDFQSQKSLL YDHENASTLI LTPTSKDVLS 
NLVMISRGKE SYKMSDKLKG NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM 
RVASPSRKVQ FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN 
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV LAEENKNSVK 
QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI SNHSFGGSFR TASNKEIKLS 
EHNIKKSKMF FKDIEEQYPT SLACVEIVNT LALDNQKKLS KPQSINTVSA HLQSSVVVSD 
CKNSHITPQM LFSKQDFNSN HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS 
TFEVPENQMT ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC 
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE TSAEVHPISL 
SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM TTGTFVEEIT ENYKRNTENE 
DNKYTAASRN SHNLEFDGSD SSKNDTVCIH KDETDLLFTD QHNICLKLSG QFMKEGNTQI 
KEDLSDLTFL EVAKAQEACH GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK 
ESFNKIVNFF DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG 
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE QGTSEITSFS 
HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN DKNLVSIETV VPPKLLSDNL 
CRQTENLKTS KSIFLKVKVH ENVEKETAKS PATCYTNQSP YSVIENSALA FYTSCSRKTS 
VSQTSLLEAK KWLREGIFDG QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL 
SNSSMSNSYS YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY 
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK IVCVSHETIK 
KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS EDILHNSLDN DECSTHSHKV 
FADIQSEEIL QHNQNMSGLE KVSKISPCDV SLETSDICKC SIGKLHKSVS SANTCGIFST 
ASGKSVQVSD ASLQNARQVF SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI 
SQKGFSYNVV NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ 
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK VSPYLSQFQQ 
DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF SDVPVKTNIE VCSTYSKDSE 
NYFETEAVEI AKAFMEDDEL TDSKLPSHAT HSLFTCPENE EMVLSNSRIG KRRGEPLILV 
GEPSIKRNLL NEFDRIIENQ EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE 
RQEIQNPNFT APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG 
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN DNEIHQFNKN 
NSNQAVAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR QRVFPQPGSL YLAKTSTLPR 
ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI KINSKNAESF QFHTEDYFGK ESLWTGKGIQ 
LADGGWLIPS NDGKAGKEEF YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK 
EFANRCLSPE RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI 
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK IILHGAELVG 
SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP FPLPLSSLFS DGGNVGCVDV 
IIQRAYPIQW MEKTSSGLYI FRNEREEEKE AAKYVEAQQK RLEALFTKIQ EEFEEHEENT 
TKPYLPSRAL TRQQVRALQD GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK 
QAQIQLEIRK AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL 
TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ PREPLHFSKF 
LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL LAIKFWIDLN EDIIKPHMLI 
AASNLQWRPE SKSGLLTLFA GDFSVFSASP KEGHFQETFN KMKNTVENID ILCNEAENKL 
MHILHANDPK WSTPTKDCTS GPYTAQIIPG TGNKLLMSSP NCEIYYQSPL SLCMAKRKSV 
STPVSAQMTS KSCKGEKEID DQKNCKKRRA LDFLSRLPLP PPVSPICTFV SPAAQKAFQP 
PRSCGTKYET PIKKKELNSP QMTPFKKFNE ISLLESNSIA DEELALINTQ ALLSGSTGEK 
QFISVSESTR TAPTSSEDYL RLKRRCTTSL IKEQESSQAS TEECEKNKQD TITTKKYI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.