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SALSA MLPA KIT P045 BRCA2 / CHEK2
BREAST CARCINOMA is the most common malignancy among women in developed countries and family history remains the strongest single predictor of breast cancer risk. Mutations in the BRCA1 and BRCA2 genes are linked to a high risk of young-onset breast cancer, and appear to be responsible for approximately 10% of total breast cancer cases. Women with these mutations have a cumulative risk of developing breast cancer (up to age 70) of 55-85%. The BRCA1 and BRCA2 proteins are associated with the activation of double-strand break repair and/or homologous recombination. Unlike BRCA1, BRCA2 has not been linked to ovarian cancer. BRCA2 mutations are less frequent than BRCA1 mutations but in families with male breast cancer cases, BRCA2 mutations may be more frequent. The P045B probemix contains probes for all exons of the BRCA2 gene. Two probes are present for exons 1, 3 and 27, and for the large exon 11. In addition, two probes are present for sequences just before and after the BRCA2 gene. As a control, 8 probes for other human genes located on different chromosomes are included. In addition to the BRCA2 probes and the control probes, three probes for the CHEK2 gene on Chr. 22q12.1 are included in the P045B probemix. One of these probes will only result in an amplification product in case the DNA sample contains the CHEK2 1100delC mutation. The other two probes should detect some of the copy number changes of this gene. The 1100delC allele appears to result in a two fold increase of breast cancer risk in woman and a 10-fold increase of risc in men. The 1100delC allele has been found in the Netherlands in 1.1% of healthy individuals and in 5.1% of individuals with breast cancer, including 13.5% of individuals from families with male breast cancer. CHEK2 gene deletions have been described but the frequency is not known to us. Probes for all CHEK2 exons are present in the P190 CHEK2 probeset. Heterozygous germline mutations in CHEK2 have also been found in patients with Li-Fraumeni syndrome. MLPA tests for BRCA1 (P002 & P087), PALB2 (P057, P260), BRIP1 (P240), RAD50 (P260) and ATM (P041-042) are also available. Mutations in these genes have also been linked to breast cancer risk (MIM607585). Please note that the P090 BRCA2 probe set is identical to this P045B probes et but does not contain probes for CHEK2.
Full mix description (pdf)
Last change in probe mix content: Lot 1007 (October 2007) Current Lot Number.: Lot 0108
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)
[http://www.ncbi.nlm.nih.gov/sites/entrez?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 -- Large genomic BRCA2 rearrangements and male breast 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. 2005 -- Large genomic deletions inactivate the BRCA2 gene in breast cancer families. 2005 -- Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families.
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