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Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women
journal contribution
posted on 2022-11-29, 22:50 authored by Rebekah McWhirterRebekah McWhirter, R J Thomson, J R Marthick, A R Rumbold, M A Brown, D Taylor-Thomson, E L Maypilama, J R Condon, J L DickinsonObjective 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.
History
Journal
Gynecologic OncologyVolume
133Pagination
421 - 426Publisher DOI
ISSN
0090-8258eISSN
1095-6859Publication classification
C1 Refereed article in a scholarly journal; C1.1 Refereed article in a scholarly journalUsage metrics
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Science & TechnologyLife Sciences & BiomedicineOncologyObstetrics & GynecologyVulvar cancerVulvar intraepithelial neoplasiaHomozygosityHuman papillomavirusGenetic risk factorsAboriginal and Torres Strait Islander peoplesHUMAN-PAPILLOMAVIRUSINTRAEPITHELIAL NEOPLASIARISKAUTOZYGOSITYASSOCIATIONCOMMUNITIESLESIONSTRENDS
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