While ultraviolet radiation (UV) is critical in the pathogenesis of @entity1491 ( @entity1491 ), its role in determining the phenotypic variation shown by @entity1 is unknown. Thus, @entity1 manifest variation in @entity1491 numbers, patterns of presentation and @entity5 site. We have used this diversity to classify @entity1 into subgroups that are associated with different risks of developing @entity5 . Two phenotypes are particularly interesting. Firstly, presentation with clusters of @entity1491 . These @entity1 , termed multiple presentation phenotype (MPP), had two to five @entity1491 at one presentation, suggesting rapid accrual over short periods of time. They comprised 15% of our 1200 @entity1491 @entity1 . A minority of @entity1 demonstrated multiple clustering events, a phenomenon that is associated with a genetic pre-disposition. The second risk phenotype, characterised by @entity5 on the trunk, is also associated with a pre-disposition. Both phenotypes were characterised by a susceptibility to develop numerous @entity1491 . Thus, all our @entity1 with more than five @entity1491 had one or both of these phenotypes. We are using a candidate gene approach to identify loci associated with risk of these phenotypes (susceptibility genes) and @entity5 numbers in them (modifier genes). Interestingly, we did not identify differences in UV exposure between @entity1 with high- and low-risk phenotypes.

Susceptibility and modifier genes in XXXX and their associations with clinical phenotype.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumours', 'tumour'] @entity1491 :: ('MESH:D002280', 'Disease') :: ['basal cell carcinomas', 'BCC']
@entity1491 :: (MESH:D002280,Disease) :: ['cutaneous basal cell carcinomas']
