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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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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 |
113705.0018; BREAST-OVARIAN CANCER |
| Identified Mutation |
1-BP INS, 5382C; Simard et al. [Nature Genetics 8: 392-398 (1994)] studied 30 Canadian families with breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene. They identified a 1-bp (C) insertion at position 5382 in exon 20, changing the reading frame of the mRNA and causing a premature termination codon at position 1829 in exon 24. |
| Remarks |
Positive family history; diagnosed at age 43; BRCA1 germline mutation is 5382insC in exon 20, codon 1755 |
| 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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| 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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| Manola KN, Terzoudi GI, Dardoufas CE, Malik SI, Pantelias GE, Radioprotective effect of amifostine on cells from cancer prone patients and healthy individuals studied by the G2 and PCC assays International journal of radiation biology79:831-8 2003 |
| PubMed ID: 14630542 |
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| Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, Deshano ML, Brody LC, et al, Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet8:387-91 1994 |
| PubMed ID: 7894491 |
| dbSNP |
dbSNP ID: 11869 |
| 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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