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SALSA MLPA KIT P087 BRCA1
Defects in the BRCA1 gene on human chromosome 17 are an important cause of hereditary breast cancer. Features characteristic of hereditary, versus sporadic, breast cancer are: younger age at diagnosis, frequent bilateral disease, and more frequent occurrence of disease among men. The probemix included in this kit contains probes for each exon of the BRCA1 gene. In addition, 9 probes for other human genes located on different chromosomes are included as a control. In the Netherlands, more than 30 % of the BRCA1 related cases of hereditary breast cancer are due to copy number changes of one or more exons of this gene (Petrij-Bosch, A. et al. Nature Genet., 17: 341-345, 1997). The majority of these are due to two frequently occurring founder mutations: deletion of exon 13 or exon 22. Estimates in other countries are lower and range from 5 to 15 % (Unger,M.A. et al., Am.J.Hum.Genet. 67: 841-850, 2000). A wide variety of different exon deletions and duplications have been described. Exon deletions and amplifications will usually not be detected by sequence analysis of the complete BRCA1 gene. Known deletions and amplifications can be easily tested by PCR, but the number of different deletions is becoming prohibitively large. Analysis by MLPA is an easy to perform alternative that is also capable of detecting new deletions and amplifications. SALSA MLPA kit P087 BRCA1 can be used to confirm results obtained with the P002 probemix. We recommend using the P002 kit for the primary screening. P087 BRCA1 contains one probe for each BRCA1 exon. Distance between the ligation sites of the P087 probes and the corresponding P002 probes is at least 20 nucleotides, with the exception of exon 24 probe.
Full mix description (pdf)
Last change in probe mix content: Lot 0508 (May 2008) Current Lot Number.: Lot 0508
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
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[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17470134&query_hl=0&itool=pubmed_docsum]
References 2007 -- Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer. 2006 -- Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. 2006 -- Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. 2006 -- Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. 2006 -- Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer. 2006 -- Establishment and characterization of xenografts and cancer cell cultures derived from BRCA1 -/- epithelial ovarian cancers. 2005 -- Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. 2004 -- Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. 2004 -- Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. 2004 -- Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. 2003 -- Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. 2003 -- Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families.
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