International Journal of Epidemiology 2000;29:408-415
© International Epidemiological Association 2000
Patterns of familial aggregation of three melanoma risk factors: great number of naevi, light phototype and high degree of sun exposure
a INSERM Unité 358, Hôpital Saint-Louis, Paris, France.
b Department of Dermatology, Institut Gustave Roussy, Villejuif, France.
c INSERM Unité 155, Paris, France.
d Unité des Marqueurs Génétiques des Cancers, Institut Gustave Roussy, Villejuif, France.
Background Besides melanoma susceptibility genes and shared environmental exposures, part of the familial clustering of cutaneous malignant melanoma (CMM) might be due to familial aggregation of melanoma-associated phenotypes. Our goal was to assess the patterns of familial aggregation of three melanoma risk factors: great number of naevi (GNN), light phototype (LP) and high degree of sun exposure (HDSE).
Methods Familial aggregation of GNN, LP and HDSE was investigated in 66 French families with at least two CMM cases and was measured by the asssociation of the relatives' traits with the probands' traits, using the generalized estimating equations approach. The probands were the melanoma cases leading to ascertainment of the families, subdivided into cases (with the trait studied) and controls (without the trait).
Results We found significant evidence for familial aggregation of GNN only among sibs (OR = 3.7, 95% CI : 1.4–10.5, P = 0.01), of LP among blood relatives (OR = 3.8, 95% CI : 1.8–8.0, P = 0.004) and of HDSE among blood relatives (OR = 4.5, 95% CI : 2.1–9.9, P < 0.001) and spouses (OR = 44.3, 95% CI : 5.1–382.2, P < 10–3). These results suggest that genetic factors might account for the clustering of GNN and LP and shared environment for the aggregation of HDSE. The GNN clustering was lower in families with increasing numbers of CMM (
3 cases) or presence of p16 mutations, the opposite being observed for LP and HDSE. Moreover, the familial aggregation of LP was significantly lower in families with highly sun-exposed members.
Conclusion Melanoma might not only result from specific genetic and environmental factors but also from those underlying melanoma-associated traits involving complex gene-gene and gene-environment interactions.
Keywords Melanoma, familial aggregation, naevus, phototype, sun exposure, generalized estimating equations
Accepted 2 December 1999
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