Abstract Number: 15

Genetic polymorphisms associated with clinical and dermoscopic naevus signature patterns

H.P. Soyer

Meeting: 2014 Dermcoll

Session Information

Date: -

Session Title: Melanoma Symposium 1

Session Time: -

The focus of our research is concerned with investigations
of the naevus phenotype (number, size, distribution, profile
and dermoscopic pattern) in melanoma patients/families
and cases and their correlation with melanocyte biology and
pigmentation genetics in relation to human skin cancer.
Major goals are to understand the genetic basis of the
naevus phenotype as well as human pigmentation and to
assess the phenotypic association of these physical traits
including skin, hair and eye colour with skin UV-sensitivity
and for skin cancer risk. We have imaged clinically and
dermoscopically 570 patients so far and have accrued a
database of naevus phenotypes which we are correlating
with the genotype.
The group has isolated, characterised and searched for
polymorphism within several human genes that encode
enzymes, structural proteins, signalling molecules and
receptors that are involved in the regulation and formation
of the melanin biosynthetic pathway. Functional analysis of
the human pigmentation gene set will ultimately provide a
full appreciation of this biological system linking genotype
with phenotype. Specifically the role of the MC1R gene variants
in directing skin phototype and response to UV-induced
ligand binding and receptor activation is a major area of
investigation. Preliminary results of our research will be
presented.