TY - JOUR
T1 - Runs of homozygosity and a cluster of vulvar cancer in young Australian Aboriginal women
AU - Mcwhirter, Rebekah E.
AU - Thomson, Russell J.
AU - Marthick, James R.
AU - Rumbold, Alice R.
AU - Brown, Matthew A.
AU - Taylor-Thomson, Debbie
AU - Maypilama, Elaine L.
AU - Condon, John R.
AU - Dickinson, Joanne L.
N1 - Funding Information:
This work was supported by the National Health and Medical Research Council [Project Grant 1003817 , Career Development Fellowship APP1022996 to ARR, Senior Principal Research Fellowship to MAB] and the Australian Research Council [Future Fellowship FT120100623 to JLD].
PY - 2014/6
Y1 - 2014/6
N2 - 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.
AB - 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.
KW - Aboriginal and Torres Strait Islander peoples
KW - Genetic risk factors
KW - Homozygosity
KW - Human papillomavirus
KW - Vulvar cancer
KW - Vulvar intraepithelial neoplasia
UR - http://www.scopus.com/inward/record.url?scp=84901673646&partnerID=8YFLogxK
U2 - 10.1016/j.ygyno.2014.03.566
DO - 10.1016/j.ygyno.2014.03.566
M3 - Article
C2 - 24690477
AN - SCOPUS:84901673646
SN - 0090-8258
VL - 133
SP - 421
EP - 426
JO - Gynecologic oncology
JF - Gynecologic oncology
IS - 3
ER -