Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot"
- Sharon E Johnatty 1, Jonathan Beesley , Xiaoqing Chen , Stuart Macgregor , David L Duffy , Amanda B Spurdle , Anna deFazio , Natalie Gava , Penelope M Webb , Mary Anne Rossing , Jennifer Anne Doherty , Marc T Goodman , Galina Lurie , Pamela J Thompson , Lynne R Wilkens , Roberta B Ness , Kirsten B Moysich , Jenny Chang-Claude , Shan Wang-Gohrke , Daniel W Cramer , Kathryn L Terry , Susan E Hankinson , Shelley S Tworoger , Montserrat Garcia-Closas , Hannah Yang , Jolanta Lissowska , Stephen J Chanock , Paul D Pharoah , Honglin Song , Alice S Whitemore , Celeste L Pearce , Daniel O Stram , Anna H Wu , Malcolm C Pike , Simon A Gayther , Susan J Ramus , Usha Menon , Aleksandra Gentry-Maharaj , Hoda Anton-Culver , Argyrios Ziogas , Estrid Hogdall , Susanne K Kjaer , Claus Hogdall , Andrew Berchuck , Joellen M Schildkraut , Edwin S Iversen , Patricia G Moorman , Catherine M Phelan , Thomas A Sellers , Julie M Cunningham , Robert A Vierkant , David N Rider , Ellen L Goode , Izhak Haviv , Georgia Chenevix-Trench , , ,
- 1Queensland Institute of Medical Research, Brisbane, Australia. sharonJo@qimr.edu.au
- 0Queensland Institute of Medical Research, Brisbane, Australia. sharonJo@qimr.edu.au
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View abstract on PubMed
Summary
This summary is machine-generated.Genetic variations in genes interacting with the tumor microenvironment may influence ovarian cancer risk. A study identified a TERT gene variant associated with increased serous ovarian cancer risk in non-Hispanic white individuals.
Area Of Science
- Genetics
- Oncology
- Cancer Epidemiology
Background
- Ovarian cancer susceptibility may be influenced by gene variants involved in stromal-epithelial interactions.
- Investigating these genetic factors is crucial for understanding cancer development.
Purpose Of The Study
- To evaluate common single nucleotide polymorphisms (SNPs) in 173 genes implicated in stromal-epithelial interactions for their association with ovarian cancer risk.
- To identify specific genetic variants contributing to ovarian cancer susceptibility.
Main Methods
- A two-stage genome-wide association study (GWAS) approach was employed within the Ovarian Cancer Association Consortium (OCAC).
- Discovery stage involved genotyping 1,536 SNPs in 675 epithelial ovarian cancer cases and 1,162 controls.
- Replication stage utilized TaqMan genotyping for selected SNPs in up to 3,059 cases and 8,905 controls across multiple studies.
Main Results
- Initial associations with SNPs in PODXL, ITGA6, and MMP3 were not replicated in the larger cohort.
- Genotypes at TERT rs7726159 showed an association with ovarian cancer risk in a smaller replication study.
- Combined analysis revealed an increased risk of serous ovarian cancer among non-Hispanic whites for the TERT SNP (adj. ORper-allele 1.14).
Conclusions
- The TERT gene locus at 5p15.33, similar to the 8q24 locus, is implicated as a general cancer susceptibility locus.
- This finding supports the hypothesis that gene variants involved in host-microenvironment interactions contribute to ovarian cancer risk.
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