Text Search Results : breast cancer
45 results found
| LocusLink ID |
Organism |
Gene Name | Gene symbol | Summary |
| 273 | Homo Sapiens | prostate androgen-regulated transcript 1 | PART1 | summary: This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. |
| 672 | Homo Sapiens | angio-associated, migratory cell protein | AAMP | summary: BRCA1, which functions as a tumor suppressor in human breast cancer cells, is a nuclear phosphoprotein which associates with RNA polymerase II holoenzyme. Mutations in BRCA1 are predicted to be responsible for approximately 45% of inherited breast cancer and more than 80% of inherited breast and ovarian cancer. BRCA1 may function as a transcriptional regulator, due to an amino terminal DNA-binding ring finger motif, nuclear localization signals, and an acidic carboxy terminal domain. BRCA1 is also a granin-like protein that functions as a secreted growth inhibitory protein. BRCA1 may normally serve as a negative regulator of mammary epithelial cell growth. This function is compromised in breast cancer either by direct mutation or by alterations in gene expression. BRCA1 participates in transcription-coupled repair of oxidative DNA damage. BRCA1 spans an 81-kb region of human chromosome 17, and consists of 24 exons, 22 of which are coding exons. The BRCA1 genomic sequence has an unusually high density of Alu repetitive DNA (41.5%), but a relatively low density (4.8%) of other repetitive sequences. BRCA1 intron lengths ranged in size from 403 bp to 9.2 kb and contain 3 intragenic microsatellite markers located in introns 12, 19, and 20. Other genes have been localized close to BRCA1 on chromosome 17. The order of genes on the chromosome is: centromere-IFP35-VAT1-RHO7-BRCA1-M17S2-telomere. Alternative splicing may play a significant role in modulating the subcellular localization and physiological function of BRCA1. |