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Updated: Jun 27, 2025
A Robust Discovery Platform for the Identification of Novel Mediators of Melanoma Metastasis
Published on: March 8, 2022
Aggregation of melanoma tumour site within Western Australian families
Sarah V Ward1, Esther N Drill2, Colin B Begg2
1School of Population and Global Health, The University of Western Australia, 35 Stirling Highway, Crawley, Western Australia, Australia; Medical School, The University of Western Australia, 35 Stirling Highway,Crawley, Western Australia, Australia; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, 633 3rd Avenue, New York, NY 10017, USA.
Background:
Evidence is emerging that melanoma has distinct aetiologic pathways and subtypes, characterized by factors like anatomic site of the tumour. To explore genetic influences on anatomic subtypes, we examined the extent to which melanomas in first-degree relatives shared the same body site of occurrence.
Methods:
Population-level linked data was used to identify the study population of over 1.5 million individuals born in Western Australia between 1945 and 2014, and their first-degree relatives. There were 1009 pairs of invasive tumours from 677 family pairs, each categorised by anatomic site. Greater than expected representation of site-concordant pairs would suggest the presence of genetic factors that predispose individuals to site-specific melanoma.
Results:
Comparing observed versus expected totals, we observed a modest increase in site concordance for invasive head/neck and truncal tumours (P=0.02). A corresponding analysis including in situ tumours showed a similar concordance (P=0.05). No further evidence of concordance was observed when stratified by sex.
Conclusion:
In conclusion, modest evidence of aggregation was observed but with inconsistent patterns between sites. Results suggest that further investigation into the familial aggregation of melanoma by tumour site is warranted, with the inclusion of genetic data in order to disentangle the relative contributions of genetic and environmental factors.
