| Name | breast cancer 2, early onset |
| Symbol | BRCA2 |
| Aliases | |
| Gene Product | - breast cancer 2, early onset
|
| Category | - Mutation in Prostate cancer
- Polymorphism in Prostate cancer
|
| UniGene | Hs.34012 |
| OMIM | 600185 |
| Locus | 675 |
| Summary | Mutations in BRCA1 and BRCA2 have been linked to an elevated risk of young onset breast cancer which has been demonstrated to be due to the inheritance of dominant susceptibility genes conferring a high risk of the disease. Unlike BRCA1, BRCA2 has not been linked to ovarian cancer. While BRCA1 mutations are typically microinsertions and point mutations, BRCA2 mutations are typically microdeletions. BRCA2 putatively functions as a tumor suppressor gene, however, its exact function has not been well characterized. The similarity of, and functional analysis of, BRCA2 and BRCA1 proteins, suggests that these proteins function in the same genetic pathway. BRCA1 and BRCA2 have transcriptional activation potential and the two proteins are associated with the activation of double-strand break repair and/or homologous recombination. The two proteins have been shown to coexist and colocalize in a biochemical complex. |
| Gene Ontology | |
| Expression | | EST (44 ESTs, 27 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/27) |  | 1/40686 |
| colon (4/853) | | 4/165626 |
| embryo (1/19) | | 1/37976 |
| germ cell (1/7) | | 1/57383 |
| head and neck (1/990) | | 1/79796 |
| kidney (2/86) | | 3/132968 |
| lung (1/312) | | 1/245386 |
| oral cavity (1/18) | | 8/44567 |
| stomach (1/312) | | 1/129930 |
| testis (4/171) | | 9/117531 |
| uncharacterized tissue (10/1773) | | 14/713325 |
|
| SAGE (4147405 tags, 72 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (10/19) | | 15/782545 |
| colon (3/8) | | 3/163354 |
| eye (4/6) | | 11/689667 |
| kidney (1/2) | | 1/32078 |
| lung (1/1) | | 2/178286 |
| mammary gland (8/19) | | 11/486189 |
| muscle (1/2) | | 1/53875 |
| ovary (3/10) | | 4/155777 |
| pancreas (1/8) | | 2/94122 |
| prostate (5/13) |  | 6/367458 |
| skin (1/7) | | 1/8851 |
| stomach (2/3) | | 4/277331 |
| uncharacterized tissue (9/22) | | 17/723700 |
| vascular (2/3) | | 3/134172 |
|
|
| SNP | rs189979 (G/T:intron); rs1963505 (A/G:intron); rs798652 (C/T:intron); rs542551 (A/G:intron); rs1475990 (C/T:intron); rs573014 (C/T:intron); rs543304 (C/T:coding-nonsyn); rs396579 (G/A:intron); rs1029304 (A/G:intron); rs206067 (G/A:intron); rs144848 (T/G:coding-nonsyn); rs206340 (T/C:intron); rs1799943 (T/G:coding-nonsyn); rs2219594 (G/T:coding-nonsyn); rs721185 (C/T:intron); rs2320236 (C/T:intron); rs517118 (G/A:intron); rs1460816 (A/G:intron); rs798831 (T/C:intron); rs811637 (A/C:intron); rs766173 (T/G:coding-nonsyn); rs206095 (C/T:intron); rs169546 (A/G:coding-nonsyn); rs2238162 (C/A:intron); rs2181677 (C/T:intron); rs1148319 (A/T:locus-region); rs15869 (A/C:mrna-utr); rs3072036 (TTT/-:intron); rs1380946 (C/T:intron); rs2227311 (A/T:coding-nonsyn); rs2126042 (G/A:intron); rs206114 (C/G:intron); rs703223 (T/G:intron); rs1012129 (A/G:intron); rs206145 (C/T:intron); rs1046984 (T/C:coding-nonsyn); rs1801406 (T/C:coding-nonsyn); rs3092860 (TTAA/-:intron); rs559067 (C/T:intron); |
| Evidence | Mutation in Prostate cancer
Polymorphism in Prostate cancer
|
