Familial Melanoma II
Study Code:ML2
Sample:1386 subjects
Start Date:Jun.1998
Status:Completed
Contact:Anjali Henders
More Info:QIMR only


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 disease.

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 had melanoma.

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 population.

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.