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A genome-wide association study to identify genetic markers associated with endometrial cancer grade

BioMed Central
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DOI: 10.1186/1897-4287-10-s2-a47
  • Meeting Abstract
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MEETING ABSTRACT Open Access A genome-wide association study to identify genetic markers associated with endometrial cancer grade T O’Mara1,2, D Duffy2, DJ Thompson3, S Ahmed4, K Ferguson2, CS Healey4, ANECS2, G Montgomery2, M Shah4, J Morrison3, PP Pharoah3,4, AM Dunning4, PM Webb2, DF Easton3,4, AB Spurdle2* From Familial Aspects of Cancer 2011 Research and Practice: A combined meeting of kConFab, Australian Breast Cancer Family Study, Australian Colorectal Cancer Family Study, Australian Ovarian Cancer Study, Family Cancer Clinics of Australia and New Zealand and kConFab Kingscliff, Australia. 23-26 August 2011 Endometrial cancer is the most commonly diagnosed gynaecological cancer. Although endometrioid endome- trial cancer (80% of cases) generally carries a good prog- nosis, some patients with this tumour subtype relapse within two years. Identifying genetic variants associated with prognosis could inform clinical decision-making for management at diagnosis, and inform development of chemotherapeutic agents targeting aggressive disease. Genome-wide association studies (GWAS) have been successful in identifying common genetic variation involved in cancer susceptibility. Presently there are lim- ited published studies using GWAS data to identify sin- gle nucleotide polymorphisms (SNPs) associated with tumour prognostic indicators, such as grade. We used case data from an endometrial cancer case-control GWAS to assess association of SNPs with endometrial cancer grade. Genome-wide genotyping of 1285 Austra- lian and British women with endometrioid endometrial cancer and reporting Caucasian ethnicity was performed using the Illumina 610K BeadChip. After applying qual- ity control measures, data on 583,366 SNPs for 1220 cases with grade information were used in the analysis. PLINK software was used to assess SNP association with grade (1, 2 or 3), adjusting for study group (Austra- lian or British). Fifty-seven SNPs were found to be sig- nificant at <10–4. Two variants with evidence of as

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