Description:
BREAST CANCER, TYPE 1; BRCA1
BREAST CANCER INFORMATION CORE (BIC) BRCA1/BRCA2 MUTATION PANEL DNA SAMPLES
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
BRCA1 |
| Chromosomal Location |
17q21.31 |
| Allelic Variant 1 |
113705.0006; BREAST-OVARIAN CANCER |
| Identified Mutation |
40-BP DEL, FS397TER; Castilla et al. (1994) studied 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene. They identified a 40-bp deletion from position 1294 to 1333, which led to a premature termination codon that was 5 codons distal to the deletion and predicted a truncated BRCA1 protein of 396 amino acids. |
| Remarks |
Developed intra-abdominal carcinomatosis 1 year after prophylactic bilateral oophorectomy at age 42; 1 relative with breast cancer and 3 relatives with ovarian cancer; BRCA1 germline mutation is 1294del40 in exon 11, codons 392-405 |
| Atkins A, Gupta P, Zhang BM, Tsai WS, Lucas J, Javey M, Vora A, Mei R, Detection of Circulating Tumor DNA with a Single-Molecule Sequencing Analysis Validated for Targeted and Immunotherapy Selection Molecular diagnosis & therapy: 2019 |
| PubMed ID: 31209714 |
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| Rosenthal SH, Sun W, Zhang K, Liu Y, Nguyen Q, Gerasimova A, Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga C, Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F, Owen R, Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing BioMed research international2020:3289023 2019 |
| PubMed ID: 32090079 |
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| Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TR, Smith SA, Collins FS, Tucker MA, Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet57:1-7 1995 |
| PubMed ID: 7611277 |
| dbSNP |
dbSNP ID: 12008 |
| Gene Cards |
BRCA1 |
| Gene Ontology |
GO:0000151 ubiquitin ligase complex |
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GO:0003684 damaged DNA binding |
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GO:0003713 transcription coactivator activity |
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GO:0004842 ubiquitin-protein ligase activity |
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GO:0005515 protein binding |
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GO:0005615 extracellular space |
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GO:0005622 intracellular |
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GO:0005634 nucleus |
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GO:0005667 transcription factor complex |
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GO:0006357 regulation of transcription from Pol II promoter |
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GO:0006359 regulation of transcription from Pol III promoter |
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GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator |
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GO:0008270 zinc ion binding |
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GO:0008274 gamma-tubulin ring complex |
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GO:0015631 tubulin binding |
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GO:0016563 transcriptional activator activity |
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GO:0016567 protein ubiquitination |
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GO:0042127 regulation of cell proliferation |
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GO:0042981 regulation of apoptosis |
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GO:0045739 positive regulation of DNA repair |
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GO:0045786 negative regulation of cell cycle |
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GO:0046600 negative regulation of centriole replication |
| NCBI Gene |
Gene ID:672 |
| NCBI GTR |
113705 BREAST CANCER 1 GENE; BRCA1 |
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604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 |
| OMIM |
113705 BREAST CANCER 1 GENE; BRCA1 |
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604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 |
| Omim Description |
BREAST CANCER 1, EARLY-ONSETBREAST-OVARIAN CANCER, INCLUDED |
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BREAST CANCER, TYPE 1; BRCA1 |
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