Description:
BREAST CANCER, TYPE 1; BRCA1
BREAST CANCER INFORMATION CORE (BIC) BRCA1/BRCA2 MUTATION PANEL DNA SAMPLES
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
BRCA1 |
| Chromosomal Location |
17q21.31 |
| Allelic Variant 1 |
Stop codon at 285; BREAST CANCER, TYPE 1 |
| Identified Mutation |
916delTT |
| Remarks |
Breast cancer diagnosed at age 55; ovarian cancer diagnosed at age 65; family history includes a daughter, sister, and mother with breast cancer; frameshift mutation in BRCA1 gene is 916delTT in exon 11, at codon 266 leading to a stop codon at codon 285 (E266fsX285) |
| 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 |
| |
| Tian H, Brody LC, Fan S, Huang Z, Landers JP, Capillary and microchip electrophoresis for rapid detection of known mutations by combining allele-specific DNA amplification with heteroduplex analysis. Clin Chem47(2):173-85 2001 |
| PubMed ID: 11159764 |
| |
| Serova O, Montagna M, Torchard D, Narod SA, Tonin P, Sylla B, Lynch HT, Feunteun J, Lenoir GM, A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet58:42-51 1996 |
| PubMed ID: 8554067 |
| Gene Cards |
BRCA1 |
| Gene Ontology |
GO:0000151 ubiquitin ligase complex |
|
GO:0003684 damaged DNA binding |
|
GO:0003713 transcription coactivator activity |
|
GO:0004842 ubiquitin-protein ligase activity |
|
GO:0005515 protein binding |
|
GO:0005615 extracellular space |
|
GO:0005622 intracellular |
|
GO:0005634 nucleus |
|
GO:0005667 transcription factor complex |
|
GO:0006357 regulation of transcription from Pol II promoter |
|
GO:0006359 regulation of transcription from Pol III promoter |
|
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator |
|
GO:0008270 zinc ion binding |
|
GO:0008274 gamma-tubulin ring complex |
|
GO:0015631 tubulin binding |
|
GO:0016563 transcriptional activator activity |
|
GO:0016567 protein ubiquitination |
|
GO:0042127 regulation of cell proliferation |
|
GO:0042981 regulation of apoptosis |
|
GO:0045739 positive regulation of DNA repair |
|
GO:0045786 negative regulation of cell cycle |
|
GO:0046600 negative regulation of centriole replication |
| NCBI Gene |
Gene ID:672 |
| NCBI GTR |
113705 BREAST CANCER 1 GENE; BRCA1 |
|
604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 |
| OMIM |
113705 BREAST CANCER 1 GENE; BRCA1 |
|
604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 |
| Omim Description |
BREAST CANCER 1, EARLY-ONSETBREAST-OVARIAN CANCER, INCLUDED |
| |
BREAST CANCER, TYPE 1; BRCA1 |
|