University Of Tasmania

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

journal contribution
posted on 2023-05-18, 01:09 authored by Rebekah McWhirterRebekah McWhirter, Russell Thomson, James MarthickJames Marthick, Rumbold, AR, Brown, MA, Taylor-Thomson, D, Maypilama, EL, Condon, JR, Joanne DickinsonJoanne Dickinson
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.


Publication title

Gynecologic Oncology








Menzies Institute for Medical Research


Academic Press Inc Elsevier Science

Place of publication

525 B St, Ste 1900, San Diego, USA, Ca, 92101-4495

Rights statement

Copyright 2014 Elsevier

Repository Status

  • Restricted

Socio-economic Objectives

Aboriginal and Torres Strait Islander determinants of health