Melanoma rates are increasing amongst
white skinned populations throughout the world. In Australia, the incidence of cutaneous melanoma is rising
more rapidly than that of any other recorded cancer, overtaking those of
lung, bowel and breast cancers.
It has been recognised for some years that
a family history of melanoma is associated with an increased risk for this
The Queensland Familial Melanoma Project (ML) was undertaken to investigate
- the role of genetic susceptibility as
indicated by skin type, pigmentation and the prevalence of naevi
- exposure to solar ultraviolet radiation; and their
interaction in the aetiology of familial melanoma
After obtaining doctor's consent, a brief
family history questionnaire was mailed to all Queensland residents with a first primary cutaneous melanoma
diagnosed between 1982 and 1990. Detailed information on melanoma history and
standard melanoma risk factors was sought from all responding twins and
familial cases, from a sample of non-familial cases, and from cases'
relatives. Medical confirmation was sought for all relatives reported to have
The final sample comprises 15,907 persons
in the 1,912 families of 2,118 melanoma cases, including 509 families in
which there are two or more individuals with confirmed melanoma. Melanoma
history and risk factors were obtained for 9,746 relatives, including 94
twins of cases.
This is the largest family and twin study
of cutaneous melanoma yet conducted in an unselected, geographically-defined
Recent research has identified a gene
(CDKN2) which influences melanoma susceptibility in some families. One of the
major goals of The Queensland Familial Melanoma Project is to investigate,
for the first time, the importance in the population of melanoma
susceptibility genes such as CDKN2, and their interaction with known melanoma
risk factors, both genetic and environmental.
Preliminary analyses of the data collected
from the initial stage indicated that to succeed in this research, it was
necessary to re-approach a number of the families who originally participated
in the study. The purpose of expanding the study was to assist the
identification of those blocks of DNA carrying the genes of interest and to thus
determine the genetic factors that are important for melanoma.
Three groups of families
were categorised - high, medium and low risk. In Stage II, the goals for each
of these groups were different.