Aggregation of melanoma tumour site within Western Australian families Journal Article


Authors: Ward, S. V.; Drill, E. N.; Begg, C. B.
Article Title: Aggregation of melanoma tumour site within Western Australian families
Abstract: 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. © 2024 The Authors
Keywords: adult; controlled study; aged; middle aged; major clinical study; genetics; heredity; genetic predisposition to disease; cancer prevention; melanoma; skin neoplasms; cohort analysis; pathology; skin tumor; population research; head and neck cancer; epidemiology; genetic predisposition; family; sex; anatomic site; trunk; familial aggregation; western australia; first-degree relative; humans; human; male; female; article; health data
Journal Title: Cancer Epidemiology
Volume: 90
ISSN: 1877-7821
Publisher: Elsevier Inc.  
Date Published: 2024-06-01
Start Page: 102580
Language: English
DOI: 10.1016/j.canep.2024.102580
PUBMED: 38701695
PROVIDER: scopus
DOI/URL:
Notes: Article -- Source: Scopus
Altmetric
Citation Impact
BMJ Impact Analytics
MSK Authors
  1. Colin B Begg
    306 Begg
  2. Esther Naomi Drill
    93 Drill
  3. Sarah Vivianne Ward
    12 Ward