Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | BRCA1 |
| Gene Name: | BRCA1 |
| Protein Full Name: | Breast cancer type 1 susceptibility protein |
| Alias: | BRCA1/BRCA2-containing complex, subunit 1; BRCC1; Breast cancer 1, early onset; Familial breast/ovarian cancer gene 1; RING finger protein 53; RNF53 |
| Mass (Da): | 207721 |
| Number AA: | 1863 |
| UniProt ID: | P38398 |
| Locus ID: | 672 |
| COSMIC ID: | BRCA1 |
| Gene location on chromosome: | 17q21 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 23018 |
| Percent of cancer specimens with mutations: | 1.79 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, deletions, and insertions, but no complex mutations across the entire protein. |
| Mutations observed as inherited: | Familial breast and/or ovarian cancer. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. |
| Transduced into viral genome: | Mill House virus 2 - Chicken |
| Normal role description: | Functions in transcription, DNA binding, transcription coupled DNA repair of double-stranded DNA breaks, homologous recombination, chromosomal stability, ubiquitination of proteins, and centrosome replication. Mutations in this gene have been associated with skin and stomach cancer. |