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Gynecol Oncol. 2014 Jun;133(3):421-6. doi: 10.1016/j.ygyno.2014.03.566. Epub 2014 Mar 29.

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

Author information

1
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.
2
Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS 7000, Australia.
3
Obstetrics and Gynaecology, University of Adelaide, Adelaide, SA 5005, Australia.
4
University of Queensland, Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD 4102, Australia.
5
Menzies School of Health Research, Charles Darwin University, Casuarina, NT 0811, Australia.
6
Menzies School of Health Research, Charles Darwin University, Casuarina, NT 0811, Australia; Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS 7000, Australia.

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.

KEYWORDS:

Aboriginal and Torres Strait Islander peoples; Genetic risk factors; Homozygosity; Human papillomavirus; Vulvar cancer; Vulvar intraepithelial neoplasia

PMID:
24690477
DOI:
10.1016/j.ygyno.2014.03.566
[Indexed for MEDLINE]

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