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

Rebekah Mcwhirter, Russell Thomson, James Marthick, Alice Rumbold, Matthew Brown, Debbie Taylor-Thomson, Elaine Maypilama, John Condon, Joanne Dickinson

    Research output: Contribution to journalArticleResearchpeer-review

    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.
    Original languageEnglish
    Pages (from-to)421-426
    Number of pages6
    JournalGynecologic Oncology
    Volume133
    Issue number3
    DOIs
    Publication statusPublished - Jun 2014

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    Vulvar Neoplasms
    Neoplasms
    Genome
    Genetic Models
    Saliva
    Population

    Cite this

    Mcwhirter, R., Thomson, R., Marthick, J., Rumbold, A., Brown, M., Taylor-Thomson, D., ... Dickinson, J. (2014). Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women. Gynecologic Oncology, 133(3), 421-426. https://doi.org/10.1016/j.ygyno.2014.03.566
    Mcwhirter, Rebekah ; Thomson, Russell ; Marthick, James ; Rumbold, Alice ; Brown, Matthew ; Taylor-Thomson, Debbie ; Maypilama, Elaine ; Condon, John ; Dickinson, Joanne. / Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women. In: Gynecologic Oncology. 2014 ; Vol. 133, No. 3. pp. 421-426.
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    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.",
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    Mcwhirter, R, Thomson, R, Marthick, J, Rumbold, A, Brown, M, Taylor-Thomson, D, Maypilama, E, Condon, J & Dickinson, J 2014, 'Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women', Gynecologic Oncology, vol. 133, no. 3, pp. 421-426. https://doi.org/10.1016/j.ygyno.2014.03.566

    Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women. / Mcwhirter, Rebekah; Thomson, Russell; Marthick, James; Rumbold, Alice; Brown, Matthew; Taylor-Thomson, Debbie; Maypilama, Elaine; Condon, John; Dickinson, Joanne.

    In: Gynecologic Oncology, Vol. 133, No. 3, 06.2014, p. 421-426.

    Research output: Contribution to journalArticleResearchpeer-review

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    Mcwhirter R, Thomson R, Marthick J, Rumbold A, Brown M, Taylor-Thomson D et al. Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women. Gynecologic Oncology. 2014 Jun;133(3):421-426. https://doi.org/10.1016/j.ygyno.2014.03.566