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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. and Dickinson, Joanne L. (2014). Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women. Gynecologic Oncology,133(3):421-426.

Document type: Journal Article
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IRMA ID 11436xPUB25
Title Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women
Author 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.
Journal Name Gynecologic Oncology
Publication Date 2014
Volume Number 133
Issue Number 3
ISSN 0090-8258   (check CDU catalogue open catalogue search in new window)
Scopus ID 2-s2.0-84901673646
Start Page 421
End Page 426
Total Pages 5
Place of Publication United States
Publisher Academic Press
HERDC Category C1 - Journal Article (DIISR)
Abstract 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.


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.
Keywords Vulvar cancer
Vulvar intraepithelial neoplasia
Human papillomavirus
Genetic risk factors
Aboriginal and Torres Strait Islander peoples
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