SALSA MLPA Probemix P077 BRCA2 Confirmation
SD024 Artificial Duplication DNA: MRC-Holland has prepared a mixture of female genomic DNA from healthy individuals and a carefully titrated amount of plasmid that contains the target sequence recognised by several probes present in the selected MLPA probemixes. The use of SD024 in MLPA reactions performed with the selected MLPA probemixes will therefore show a duplication of several sequences. This SD024 can be ordered separately.
SALSA® MLPA® probemix P045 BRCA2/CHEK2 is used in primary screening for deletions and duplications affecting one or more exons of the BRCA2 gene. The related P090 BRCA2 probemix contains the same BRCA2-specific probes as P045 but lacks the CHEK2 probes. This P077 BRCA2 Confirmation probemix can be used for confirmation of deletions or duplications in the BRCA2 gene identified with P045 or P090. All BRCA2 probes in P077, except the exon 12 probe, detect different target sequences than the C-version of P045 and the B-version of P090.
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 5 to 10% of total breast cancer cases. In addition, mutations in BRCA1 and BRCA2 genes cause around 15% of ovarian cancers overall. In general, BRCA2 mutations are less frequent than BRCA1 mutations. In families with male breast cancer cases, however, BRCA2 mutations may be more frequent.
The BRCA2 gene (27 exons) spans ~84 kb of genomic DNA and is located on chromosome 13q13.1 at about 33 Mb from the p-telomere. The P077-A3 probemix contains probes for all 27 exons of the BRCA2 gene with the exception of exon 22. For several exons more than one probe is present, resulting in a total of 38 BRCA2 probes. In addition, 10 reference probes are included in this probemix, detecting different autosomal chromosomal locations.
This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.
SALSA® MLPA® probemix P045 BRCA2/CHEK2 is used in primary screening for deletions and duplications affecting one or more exons of the BRCA2 gene. The related P090 BRCA2 probemix contains the same BRCA2-specific probes as P045 but lacks the CHEK2 probes. This P077 BRCA2 Confirmation probemix can be used for confirmation of deletions or duplications in the BRCA2 gene identified with P045 or P090. All BRCA2 probes in P077, except the exon 12 probe, detect different target sequences than the C-version of P045 and the B-version of P090.
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 5 to 10% of total breast cancer cases. In addition, mutations in BRCA1 and BRCA2 genes cause around 15% of ovarian cancers overall. In general, BRCA2 mutations are less frequent than BRCA1 mutations. In families with male breast cancer cases, however, BRCA2 mutations may be more frequent.
The BRCA2 gene (27 exons) spans ~84 kb of genomic DNA and is located on chromosome 13q13.1 at about 33 Mb from the p-telomere. The P077-A3 probemix contains probes for all 27 exons of the BRCA2 gene with the exception of exon 22. For several exons more than one probe is present, resulting in a total of 38 BRCA2 probes. In addition, 10 reference probes are included in this probemix, detecting different autosomal chromosomal locations.
This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.