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Identification of a genetic variant associated with treatment outcome in ovarian cancer: the potential role of cholesterol metabolism as a determinant of response to chemotherapy

Authors
Publisher
BioMed Central
Publication Date
Volume
10
Identifiers
DOI: 10.1186/1897-4287-10-s2-a36
Keywords
  • Meeting Abstract
Disciplines
  • Biology
  • Design
  • Medicine

Abstract

MEETING ABSTRACT Open Access Identification of a genetic variant associated with treatment outcome in ovarian cancer: the potential role of cholesterol metabolism as a determinant of response to chemotherapy Georgia Chenevix-Trench1*, Yi Lu1, Sharon Johnatty1, Eric Gamazon2, Jonathan Beesley1, Xiaoqing Chen1, Bo Gao3, Paul Harnett3, R Stephanie Huang2, Evelyn Despierre4, Florian Heitz5, Estrid Hogdall6, Claus Hogdall6, Robert Brown7, Kirsten Moyisch8, Peter Fasching9, Ellen Goode10, Amanda Russell11, Michelle Henderson11, Michelle Haber11, Eileen Dolan2, Stuart Macgregor1, Anna deFazio3, Ovarian Cancer Association Consortium (OCAC) 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 Cell-based models have shown that response to che- motherapy has a heritable component. We hypothesized that in order to identify loci associated with treatment outcome we should focus on cases known to have had uniform chemotherapy for epithelial ovarian cancer. We therefore performed a two-stage genome-wide associa- tion study (GWAS) of progression free survival (PFS) following first line carboplatin/paclitaxel chemotherapy in ovarian cancer cases. In the first stage, we genotyped (Illumina Omni1) 183 Australian cases selected using an extreme phenotype design, and also included data on 134 cases from the TCGA and 68 from Mayo Clinic. In this stage, 260 cases had ‘uniform’ treatment (“primary” group: at least 4 cycles of carboplatin 5-6 AUC and paclitaxel 135-175 mg/m2 every three weeks) and 125 cases (“secondary”) had an unknown amount of carbo- platin/paclitaxel chemotherapy. In the 2nd stage we gen- otyped 156 of the top ranking genotyped and imputed SNPs in 4660 cases (1080 ‘primary’ and 1433 ‘second- ary’) from 11 sites in OCAC. The additive allelic

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