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
GeT-RM Samples |
| 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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| MUTATION VERIFICATION |
For multiply confirmed mutations by the GeT-RM program please click here: MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Reference Materials characterized by GeT-RM |
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| Gene |
BRCA1 |
| Chromosomal Location |
17q21.31 |
| Allelic Variant 1 |
113705.0003; BREAST-OVARIAN CANCER |
| Identified Mutation |
2-BP DEL, 185AG; Sumard et al. [Nature Genetics 8: 392-398 (1994)] identified a 2-bp (AG185) deletion of the normal sequence TTA GAG of codons 22-23 in exon 3. This mutation changes the reading frame of the mRNA and causes a premature termination codon at position 39 (185delAG). In a study of 858 Ashkenazim seeking genetic testing for conditions unrelated to cancer, Struewing et al. (1995) observed the 185delAG mutation in 0.9% (95% confidence limit, 0.4%-1.8%), and in 815 reference individuals not selected for ethnic origin, none had the mutation. |
| Remarks |
Diagnosed at age 34; mother and six other relatives with breast cancer; two relatives with ovarian cancer; BRCA1 germline mutation is 185delAG in exon 3, codon 23 |
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
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| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics5:63-71 2021 |
| PubMed ID: 35394024 |
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| Loke J, Alim I, Yam S, Klugman S, Xia LC, Gruber D, Tegay D, LaBella A, Onel K, Ostrer H, Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells HGG advances3:100085 2021 |
| PubMed ID: 35146455 |
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| 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 & therapy3:100085 2019 |
| PubMed ID: 31209714 |
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| Dziadkowiec KN, Gasiorowska E, Nowak-Markwitz E, Jankowska A, PARP inhibitors: review of mechanisms of action and BRCA1/2 mutation targeting Przeglad menopauzalny = Menopause review15:215-219 2016 |
| PubMed ID: 28250726 |
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| Michalska D, Jaguszewska K, Liss J, Kitowska K, Mirecka A, Ukaszuk K., Comparison of whole genome amplification and nested-PCR methods for preimplantation genetic diagnosis for BRCA1 gene mutation on unfertilized oocytes--a pilot study. Hered Cancer Clin Pract.11(1)::10 2013 |
| PubMed ID: 23941236 |
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| Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV, Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing The Journal of molecular diagnostics : JMD11:553-61 2009 |
| PubMed ID: 19767587 |
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| Dufresne SD, Belloni DR, Wells WA, Tsongalis GJ, BRCA1 and BRCA2 mutation screening using SmartCycler II high-resolution melt curve analysis. Arch Pathol Lab Med130(2):185-7 2006 |
| PubMed ID: 16454559 |
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| Al-Wahiby S, Slijepcevic P, Chromosomal aberrations involving telomeres in BRCA1 deficient human and mouse cell lines Cytogenetic and genome research109:491-6 2004 |
| PubMed ID: 15905643 |
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| 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 |
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| Hennessy LK, Teare J, Ko C, PCR conditions and DNA denaturants affect reproducibility of single-strand conformation polymorphism patterns for BRCA1 mutations. Clin Chem44:879-82 1998 |
| PubMed ID: 9554503 |
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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: 12004 |
| 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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