| # DISEASE | BRCA1_HUMAN | Breast cancer (BC) [MIM 114480] A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO 0000269|PubMed 10323242, ECO 0000269|PubMed 12442275, ECO 0000269|PubMed 12938098, ECO 0000269|PubMed 14722926, ECO 0000269|PubMed 18285836, ECO 0000269|PubMed 7545954, ECO 0000269|PubMed 7894491, ECO 0000269|PubMed 7894493, ECO 0000269|PubMed 7939630, ECO 0000269|PubMed 8554067, ECO 0000269|PubMed 8723683, ECO 0000269|PubMed 8776600, ECO 0000269|PubMed 9482581, ECO 0000269|PubMed 9609997, ECO 0000269|PubMed 9760198}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3- fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination. |
| # DISEASE | BRCA1_HUMAN | Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM 604370] A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. {ECO 0000269|PubMed 12938098, ECO 0000269|PubMed 14722926, ECO 0000269|PubMed 8968716}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer. |
| # DISEASE | BRCA1_HUMAN | Ovarian cancer (OC) [MIM 167000] The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO 0000269|PubMed 10196379, ECO 0000269|PubMed 10486320, ECO 0000269|PubMed 14746861}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. |
| # DISEASE | BRCA1_HUMAN | Pancreatic cancer 4 (PNCA4) [MIM 614320] A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. {ECO 0000269|PubMed 18762988}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. |
| # SUBCELLULAR LOCATION | BRCA1_HUMAN | Nucleus {ECO 0000269|PubMed 15133502, ECO 0000269|PubMed 17525340, ECO 0000269|PubMed 20160719, ECO 0000269|PubMed 21144835, ECO 0000269|PubMed 26778126, ECO 0000269|PubMed 9528852}. Chromosome {ECO 0000250|UniProtKB P48754}. Cytoplasm {ECO 0000269|PubMed 20160719}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by FAM175A and the BRCA1-A complex (PubMed 26778126). Translocated to the cytoplasm during UV-induced apoptosis (PubMed 20160719). {ECO 0000269|PubMed 20160719, ECO 0000269|PubMed 26778126}. |
| UniProtKB | BRCA1_HUMAN | http://www.uniprot.org/uniprot/BRCA1_HUMAN |