title: Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women.
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.
  
  
  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.
authors.affiliation: Menzies School of Health Research, Charles Darwin University, Casuarina, NT 0811, Australia; Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS 7000, Australia. Electronic address: rebekah.mcwhirter@utas.edu.au.
authors.forename: Rebekah E
authors.initials: RE
authors.lastname: McWhirter
authors.affiliation: Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS 7000, Australia.
authors.forename: Russell J
authors.initials: RJ
authors.lastname: Thomson
authors.affiliation: Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS 7000, Australia.
authors.forename: James R
authors.initials: JR
authors.lastname: Marthick
authors.affiliation: Obstetrics and Gynaecology, University of Adelaide, Adelaide, SA 5005, Australia.
authors.forename: Alice R
authors.initials: AR
authors.lastname: Rumbold
authors.affiliation: University of Queensland, Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD 4102, Australia.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Brown
authors.affiliation: Menzies School of Health Research, Charles Darwin University, Casuarina, NT 0811, Australia.
authors.forename: Debbie
authors.initials: D
authors.lastname: Taylor-Thomson
authors.affiliation: Menzies School of Health Research, Charles Darwin University, Casuarina, NT 0811, Australia.
authors.forename: Elaine L
authors.initials: EL
authors.lastname: Maypilama
authors.affiliation: Menzies School of Health Research, Charles Darwin University, Casuarina, NT 0811, Australia.
authors.forename: John R
authors.initials: JR
authors.lastname: Condon
authors.affiliation: Menzies School of Health Research, Charles Darwin University, Casuarina, NT 0811, Australia; Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS 7000, Australia.
authors.forename: Joanne L
authors.initials: JL
authors.lastname: Dickinson
mesh_terms: D000328:Adult; D000368:Aged; D001315:Australia; D002277:Carcinoma / Q000453:epidemiology / Q000235:genetics*; D002278:Carcinoma in Situ / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D030361:Papillomavirus Infections / Q000453:epidemiology; D025341:Principal Component Analysis; D002583:Uterine Cervical Neoplasms / Q000453:epidemiology; D014846:Vulvar Neoplasms / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult; D002578:Uterine Cervical Dysplasia / Q000453:epidemiology; D000095283:Australian Aboriginal and Torres Strait Islander Peoples
keywords: Aboriginal and Torres Strait Islander peoples; Genetic risk factors; Homozygosity; Human papillomavirus; Vulvar cancer; Vulvar intraepithelial neoplasia