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

McWhirter, Rebekah E., Thomson, Russell J., Marthick, James R., Rumbold, Alice R., Brown, Matthew A., Taylor-Thomson, Debbie, Maypilama, Elaine L., Condon, John R., & Dickinson, Joanne L. (2014) Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women. Gynecologic Oncology, 133(3), pp. 421-426.

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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.


Genotyping data from saliva samples were used to identify runs of homozygosity (ROH) in order to calculate estimates of genome-wide homozygosity.


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.


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.

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5 citations in Web of Science®
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ID Code: 89072
Item Type: Journal Article
Refereed: Yes
Keywords: Aboriginal and Torres Strait Islander peoples, Genetic risk factors, Homozygosity, Human papillomavirus, Vulvar cancer, Vulvar intraepithelial neoplasia, adult, aged, article, Australian Aborigine, clinical article, controlled study, female, genotype, human, population based case control study, priority journal, runs of homozygosity, vulva cancer, Australia, Carcinoma, Carcinoma in Situ, Case-Control Studies, Cervical Intraepithelial Neoplasia, Genome-Wide Association Study, Homozygote, Humans, Middle Aged, Oceanic Ancestry Group, Papillomavirus Infections, Principal Component Analysis, Uterine Cervical Neoplasms, Vulvar Neoplasms, Young Adult
DOI: 10.1016/j.ygyno.2014.03.566
ISSN: 0090-8258
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 16 Oct 2015 00:31
Last Modified: 17 Feb 2016 05:04

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