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Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women


McWhirter, RE and Thomson, RJ and Marthick, JR and Rumbold, AR and Brown, MA and Taylor-Thomson, D and Maypilama, EL and Condon, JR and Dickinson, JL, Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women, Gynecologic Oncology, 133, (3) pp. 421-426. ISSN 0090-8258 (2014) [Refereed Article]

Copyright Statement

Copyright 2014 Elsevier

DOI: doi:10.1016/j.ygyno.2014.03.566


Objective: A cluster of vulvar cancer exists in young Aboriginal women living in remote communities in Arnhem Land, Australia. A genetic case-control study was undertaken involving 30 cases of invasive vulvar cancer and its precursor lesion, high-grade vulvar intraepithelial neoplasia (VIN), and 61 controls, matched for age and community of residence. It was hypothesized that this small, isolated population may exhibit increased autozygosity, implicating recessive effects as a possible mechanism for increased susceptibility to vulvar cancer. Methods: Genotyping data from saliva samples were used to identify runs of homozygosity (ROH) in order to calculate estimates of genome-wide homozygosity. Results: No evidence of an effect of genome-wide homozygosity on vulvar cancer and VIN in East Arnhem women was found, nor was any individual ROH found to be significantly associated with case status. This study found further evidence supporting an association between previous diagnosis of CIN and diagnosis of vulvar cancer or VIN, but found no association with any other medical history variable. Conclusions: These findings do not eliminate the possibility of genetic risk factors being involved in this cancer cluster, but rather suggest that alternative analytical strategies and genetic models should be explored. © 2014 Elsevier Inc. All rights reserved.

Item Details

Item Type:Refereed Article
Keywords:Vulvar cancer, Vulvar intraepithelial neoplasia, Homozygosity, Human papillomavirus, Genetic risk factors, Aboriginal and Torres Strait Islander peoples
Research Division:Biomedical and Clinical Sciences
Research Group:Oncology and carcinogenesis
Research Field:Cancer genetics
Objective Division:Indigenous
Objective Group:Aboriginal and Torres Strait Islander health
Objective Field:Aboriginal and Torres Strait Islander determinants of health
UTAS Author:McWhirter, RE (Dr Rebekah McWhirter)
UTAS Author:Thomson, RJ (Dr Russell Thomson)
UTAS Author:Marthick, JR (Mr James Marthick)
UTAS Author:Dickinson, JL (Professor Joanne Dickinson)
ID Code:91778
Year Published:2014
Web of Science® Times Cited:12
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-05-29
Last Modified:2018-12-13

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