Until recently this mutation had however only been identified in one case of posterior uveal melanoma.
The BRAF mutation has however been identified in several primary uveal melanoma cell lines and recently Malaponte et al (2006) identified the mutation in one primary uveal melanoma.
The CHEK2*1100delC germline mutation has, however, been found to be linked to one specific allele of the D22S275 polymorphic marker, that is located in intron 4 of CHEK2, which is present in 13% of the Dutch population (Meijers-Heijboer et al, 2002).
For hVAPB, however, such mutations have yet to be identified.
These secondary mutation spectra have, however, been poorly characterized, mainly because studies often focused at one or a few reporter loci, or exclusively on mutations at known hotspot sequences.
Studies on FLG mutations have not, however, found any association with FLG mutations and asthma/rhino-conjunctivitis in children who did not have eczema.
Mutations that affect Dp260 expression have however been associated with the liability of ophthalmic involvement [29].
Alternative explanations for the frequent TP53 mutations in muscle invasive tumors have however been put forward [3].
Somatic mutations in the RBL2 gene have, however, rarely been reported.
HCA-7 cells have, however, no mutations in APC or β-catenin (Ilyas et al, 1997; Rowan et al, 2000), resulting in low TCF-mediated transcription as shown in Figure 1B.
