SALSA MLPA Probemix P417 BAP1 detects copy number variations in the BAP1 gene.
Contents: 42 MLPA probes, including 17 probes for BAP1.
Tissue: human genomic DNA, including DNA from FFPE tissue.
Application: research on BAP1 tumour predisposition syndrome.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P417 BAP1 is a research use only (RUO) assay for the detection of deletions or duplications in the BAP1 gene, which is associated with BAP1 tumour predisposition syndrome.
BAP1 tumour predisposition syndrome (OMIM# 614327) is inherited in an autosomal dominant manner. Individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumours, including benign melanocytic tumours as well as several malignant tumours, including uveal melanoma, cutaneous melanoma, malignant mesothelioma upon exposure to asbestos, and other cancer types, such as renal cell carcinoma, basal cell carcinoma, lung adenocarcinoma and meningioma (Wiesner et al. 2011, Abdel-Rahman et al. 2011, Boru et al. 2019).
In addition, research suggests that uveal melanoma with monosomy of chromosome 3 (frequency 50-60% of all uveal melanomas) represents a distinct pathological entity as compared to uveal melanoma with normal disomy 3. The putative target gene on the 3p arm is BAP1 on 3p21.1, as inactivating somatic mutations of BAP1 are identified in >80% of patients with metastasizing uveal melanoma (Harbour et al. 2010). Moreover, BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma (Testa et al. 2011, Bott et al. 2011).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK390611/
SALSA MLPA Probemix P417 BAP1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
The commercially available positive samples below can be used with the current (B3) version of this product.