Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer
Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell‐mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tumorogenicity in ovarian cancer cell lines; A...
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| Veröffentlicht in: | International journal of cancer 2011-05, Vol.128 (9), p.2063-2074 |
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| creator | Notaridou, Maria Quaye, Lydia Dafou, Dimitra Jones, Chris Song, Honglin Høgdall, Estrid Kjaer, Susanne K. Christensen, Lise Høgdall, Claus Blaakaer, Jan McGuire, Valerie Wu, Anna H. Van Den Berg, David J. Pike, Malcolm C. Gentry‐Maharaj, Aleksandra Wozniak, Eva Sher, Tanya Jacobs, Ian J. Tyrer, Jonathan Schildkraut, Joellen M. Moorman, Patricia G. Iversen, Edwin S. Jakubowska, Anna Mędrek, Krzysztof Lubiński, Jan Ness, Roberta B. Moysich, Kirsten B. Lurie, Galina Wilkens, Lynne R. Carney, Michael E. Wang‐Gohrke, Shan Doherty, Jennifer A. Rossing, Mary Anne Beckmann, Matthias W. Thiel, Falk C. Ekici, Arif B. Chen, Xiaoqing Beesley, Jonathan Gronwald, Jacek Fasching, Peter A. Chang‐Claude, Jenny Goodman, Marc T. Chenevix‐Trench, Georgia Berchuck, Andrew Pearce, C. Leigh Whittemore, Alice S. Menon, Usha Pharoah, Paul D.P. Gayther, Simon A. Ramus, Susan J. |
| description | Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell‐mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tumorogenicity in ovarian cancer cell lines; AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1 and STAG3. Sixty‐three tagging single nucleotide polymorphisms (tSNPs) in these genes were genotyped in 1,799 invasive ovarian cancer cases and 3,045 controls to look for associations with disease risk. Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15–1.74) and the HomOR = 1.63 (1.10–1.42), p‐trend = 0.0002] and [HetOR = 0.97 (0.80–1.17), HomOR = 0.74 (0.58–0.93), p‐trend = 0.009], respectively. We genotyped rs13063604 and rs7650365 in an additional 4,590 cases and 6,031 controls from ten sites from the United States, Europe and Australia; however, neither SNP was significant in Stage 2. We also evaluated the potential role of tSNPs in these nine genes in ovarian cancer development by testing for allele‐specific loss of heterozygosity (LOH) in 286 primary ovarian tumours. We found frequent LOH for tSNPs in AXIN2, AKTIP and RGC32 (64, 46 and 34%, respectively) and one SNP, rs1637001, in STAG3 showed significant allele‐specific LOH with loss of the common allele in 94% of informative tumours (p = 0.015). Array comparative genomic hybridisation indicated that this nonrandom allelic imbalance was due to amplification of the rare allele. In conclusion, we show evidence for the involvement of a common allele of STAG3 in the development of epithelial ovarian cancer. |
| doi_str_mv | 10.1002/ijc.25554 |
| format | Article |
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Leigh ; Whittemore, Alice S. ; Menon, Usha ; Pharoah, Paul D.P. ; Gayther, Simon A. ; Ramus, Susan J.</creator><creatorcontrib>Notaridou, Maria ; Quaye, Lydia ; Dafou, Dimitra ; Jones, Chris ; Song, Honglin ; Høgdall, Estrid ; Kjaer, Susanne K. ; Christensen, Lise ; Høgdall, Claus ; Blaakaer, Jan ; McGuire, Valerie ; Wu, Anna H. ; Van Den Berg, David J. ; Pike, Malcolm C. ; Gentry‐Maharaj, Aleksandra ; Wozniak, Eva ; Sher, Tanya ; Jacobs, Ian J. ; Tyrer, Jonathan ; Schildkraut, Joellen M. ; Moorman, Patricia G. ; Iversen, Edwin S. ; Jakubowska, Anna ; Mędrek, Krzysztof ; Lubiński, Jan ; Ness, Roberta B. ; Moysich, Kirsten B. ; Lurie, Galina ; Wilkens, Lynne R. ; Carney, Michael E. ; Wang‐Gohrke, Shan ; Doherty, Jennifer A. ; Rossing, Mary Anne ; Beckmann, Matthias W. ; Thiel, Falk C. ; Ekici, Arif B. ; Chen, Xiaoqing ; Beesley, Jonathan ; Gronwald, Jacek ; Fasching, Peter A. ; Chang‐Claude, Jenny ; Goodman, Marc T. ; Chenevix‐Trench, Georgia ; Berchuck, Andrew ; Pearce, C. Leigh ; Whittemore, Alice S. ; Menon, Usha ; Pharoah, Paul D.P. ; Gayther, Simon A. ; Ramus, Susan J. ; Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer) ; Ovarian Cancer Association Consortium ; The Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer) ; on behalf of the Ovarian Cancer Association Consortium</creatorcontrib><description>Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell‐mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tumorogenicity in ovarian cancer cell lines; AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1 and STAG3. Sixty‐three tagging single nucleotide polymorphisms (tSNPs) in these genes were genotyped in 1,799 invasive ovarian cancer cases and 3,045 controls to look for associations with disease risk. Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15–1.74) and the HomOR = 1.63 (1.10–1.42), p‐trend = 0.0002] and [HetOR = 0.97 (0.80–1.17), HomOR = 0.74 (0.58–0.93), p‐trend = 0.009], respectively. We genotyped rs13063604 and rs7650365 in an additional 4,590 cases and 6,031 controls from ten sites from the United States, Europe and Australia; however, neither SNP was significant in Stage 2. We also evaluated the potential role of tSNPs in these nine genes in ovarian cancer development by testing for allele‐specific loss of heterozygosity (LOH) in 286 primary ovarian tumours. We found frequent LOH for tSNPs in AXIN2, AKTIP and RGC32 (64, 46 and 34%, respectively) and one SNP, rs1637001, in STAG3 showed significant allele‐specific LOH with loss of the common allele in 94% of informative tumours (p = 0.015). Array comparative genomic hybridisation indicated that this nonrandom allelic imbalance was due to amplification of the rare allele. In conclusion, we show evidence for the involvement of a common allele of STAG3 in the development of epithelial ovarian cancer.</description><identifier>ISSN: 0020-7136</identifier><identifier>EISSN: 1097-0215</identifier><identifier>DOI: 10.1002/ijc.25554</identifier><identifier>PMID: 20635389</identifier><identifier>CODEN: IJCNAW</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Alleles ; association studies ; Biological and medical sciences ; Female ; Female genital diseases ; Genetic Predisposition to Disease - genetics ; Gynecology. Andrology. Obstetrics ; Humans ; Loss of Heterozygosity ; Medical sciences ; Neoplasms, Glandular and Epithelial - genetics ; Nuclear Proteins - genetics ; Oligonucleotide Array Sequence Analysis ; Ovarian Neoplasms - genetics ; polymorphism ; Polymorphism, Single Nucleotide ; Risk Factors ; risk of ovarian cancer ; Tumors</subject><ispartof>International journal of cancer, 2011-05, Vol.128 (9), p.2063-2074</ispartof><rights>Copyright © 2010 UICC</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2010 UICC.</rights><rights>2010 UICC 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4444-b214e5d7f5cdab6cf4b9e8d0c12f6bedd4d013a767cb5ac607240aa8344bb0b43</citedby><cites>FETCH-LOGICAL-c4444-b214e5d7f5cdab6cf4b9e8d0c12f6bedd4d013a767cb5ac607240aa8344bb0b43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fijc.25554$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fijc.25554$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23969159$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20635389$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Notaridou, Maria</creatorcontrib><creatorcontrib>Quaye, Lydia</creatorcontrib><creatorcontrib>Dafou, Dimitra</creatorcontrib><creatorcontrib>Jones, Chris</creatorcontrib><creatorcontrib>Song, Honglin</creatorcontrib><creatorcontrib>Høgdall, Estrid</creatorcontrib><creatorcontrib>Kjaer, Susanne K.</creatorcontrib><creatorcontrib>Christensen, Lise</creatorcontrib><creatorcontrib>Høgdall, Claus</creatorcontrib><creatorcontrib>Blaakaer, Jan</creatorcontrib><creatorcontrib>McGuire, Valerie</creatorcontrib><creatorcontrib>Wu, Anna H.</creatorcontrib><creatorcontrib>Van Den Berg, David J.</creatorcontrib><creatorcontrib>Pike, Malcolm C.</creatorcontrib><creatorcontrib>Gentry‐Maharaj, Aleksandra</creatorcontrib><creatorcontrib>Wozniak, Eva</creatorcontrib><creatorcontrib>Sher, Tanya</creatorcontrib><creatorcontrib>Jacobs, Ian J.</creatorcontrib><creatorcontrib>Tyrer, Jonathan</creatorcontrib><creatorcontrib>Schildkraut, Joellen M.</creatorcontrib><creatorcontrib>Moorman, Patricia G.</creatorcontrib><creatorcontrib>Iversen, Edwin S.</creatorcontrib><creatorcontrib>Jakubowska, Anna</creatorcontrib><creatorcontrib>Mędrek, Krzysztof</creatorcontrib><creatorcontrib>Lubiński, Jan</creatorcontrib><creatorcontrib>Ness, Roberta B.</creatorcontrib><creatorcontrib>Moysich, Kirsten B.</creatorcontrib><creatorcontrib>Lurie, Galina</creatorcontrib><creatorcontrib>Wilkens, Lynne R.</creatorcontrib><creatorcontrib>Carney, Michael E.</creatorcontrib><creatorcontrib>Wang‐Gohrke, Shan</creatorcontrib><creatorcontrib>Doherty, Jennifer A.</creatorcontrib><creatorcontrib>Rossing, Mary Anne</creatorcontrib><creatorcontrib>Beckmann, Matthias W.</creatorcontrib><creatorcontrib>Thiel, Falk C.</creatorcontrib><creatorcontrib>Ekici, Arif B.</creatorcontrib><creatorcontrib>Chen, Xiaoqing</creatorcontrib><creatorcontrib>Beesley, Jonathan</creatorcontrib><creatorcontrib>Gronwald, Jacek</creatorcontrib><creatorcontrib>Fasching, Peter A.</creatorcontrib><creatorcontrib>Chang‐Claude, Jenny</creatorcontrib><creatorcontrib>Goodman, Marc T.</creatorcontrib><creatorcontrib>Chenevix‐Trench, Georgia</creatorcontrib><creatorcontrib>Berchuck, Andrew</creatorcontrib><creatorcontrib>Pearce, C. Leigh</creatorcontrib><creatorcontrib>Whittemore, Alice S.</creatorcontrib><creatorcontrib>Menon, Usha</creatorcontrib><creatorcontrib>Pharoah, Paul D.P.</creatorcontrib><creatorcontrib>Gayther, Simon A.</creatorcontrib><creatorcontrib>Ramus, Susan J.</creatorcontrib><creatorcontrib>Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer)</creatorcontrib><creatorcontrib>Ovarian Cancer Association Consortium</creatorcontrib><creatorcontrib>The Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer)</creatorcontrib><creatorcontrib>on behalf of the Ovarian Cancer Association Consortium</creatorcontrib><title>Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer</title><title>International journal of cancer</title><addtitle>Int J Cancer</addtitle><description>Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell‐mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tumorogenicity in ovarian cancer cell lines; AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1 and STAG3. Sixty‐three tagging single nucleotide polymorphisms (tSNPs) in these genes were genotyped in 1,799 invasive ovarian cancer cases and 3,045 controls to look for associations with disease risk. Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15–1.74) and the HomOR = 1.63 (1.10–1.42), p‐trend = 0.0002] and [HetOR = 0.97 (0.80–1.17), HomOR = 0.74 (0.58–0.93), p‐trend = 0.009], respectively. We genotyped rs13063604 and rs7650365 in an additional 4,590 cases and 6,031 controls from ten sites from the United States, Europe and Australia; however, neither SNP was significant in Stage 2. We also evaluated the potential role of tSNPs in these nine genes in ovarian cancer development by testing for allele‐specific loss of heterozygosity (LOH) in 286 primary ovarian tumours. We found frequent LOH for tSNPs in AXIN2, AKTIP and RGC32 (64, 46 and 34%, respectively) and one SNP, rs1637001, in STAG3 showed significant allele‐specific LOH with loss of the common allele in 94% of informative tumours (p = 0.015). Array comparative genomic hybridisation indicated that this nonrandom allelic imbalance was due to amplification of the rare allele. In conclusion, we show evidence for the involvement of a common allele of STAG3 in the development of epithelial ovarian cancer.</description><subject>Alleles</subject><subject>association studies</subject><subject>Biological and medical sciences</subject><subject>Female</subject><subject>Female genital diseases</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Loss of Heterozygosity</subject><subject>Medical sciences</subject><subject>Neoplasms, Glandular and Epithelial - genetics</subject><subject>Nuclear Proteins - genetics</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Ovarian Neoplasms - genetics</subject><subject>polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Risk Factors</subject><subject>risk of ovarian cancer</subject><subject>Tumors</subject><issn>0020-7136</issn><issn>1097-0215</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kUtvFDEQhC0EIkvgwB9AviDEYZK2x_bMXJDQikdQJC5wtvzoSRw848We3Wj_PU52CXDAFx_q66pWFyEvGZwxAH4ebtwZl1KKR2TFYOga4Ew-JquqQdOxVp2QZ6XcADAmQTwlJxxUK9t-WJG8TtOUZmpixIiFhpk6M_vgzYK0bIvDzRJsiGHZ0yucK2FKSS5U2dPbsFzTHMoPWkeoxx3GtJlwXmgaKW6qijGYSNPO5GDunR3m5-TJaGLBF8f_lHz_-OHb-nNz-fXTxfr9ZeNEfY3lTKD03SidN1a5UdgBew-O8VFZ9F54YK3pVOesNE5BxwUY07dCWAtWtKfk3cF3s7UTelf3yibqTQ6TyXudTND_KnO41ldpp1sYegV9NXhzNMjp5xbLoqdQDxKjmTFti-4VV8D7nlfy7YF0OZWScXxIYaDvKtK1In1fUWVf_b3WA_m7kwq8PgKmOBPHXK8Wyh-uHdTA5B13fuBuQ8T9_xP1xZf1IfoXftar_g</recordid><startdate>20110501</startdate><enddate>20110501</enddate><creator>Notaridou, Maria</creator><creator>Quaye, Lydia</creator><creator>Dafou, Dimitra</creator><creator>Jones, Chris</creator><creator>Song, Honglin</creator><creator>Høgdall, Estrid</creator><creator>Kjaer, Susanne K.</creator><creator>Christensen, Lise</creator><creator>Høgdall, Claus</creator><creator>Blaakaer, Jan</creator><creator>McGuire, Valerie</creator><creator>Wu, Anna H.</creator><creator>Van Den Berg, David J.</creator><creator>Pike, Malcolm C.</creator><creator>Gentry‐Maharaj, Aleksandra</creator><creator>Wozniak, Eva</creator><creator>Sher, Tanya</creator><creator>Jacobs, Ian J.</creator><creator>Tyrer, Jonathan</creator><creator>Schildkraut, Joellen M.</creator><creator>Moorman, Patricia G.</creator><creator>Iversen, Edwin S.</creator><creator>Jakubowska, Anna</creator><creator>Mędrek, Krzysztof</creator><creator>Lubiński, Jan</creator><creator>Ness, Roberta B.</creator><creator>Moysich, Kirsten B.</creator><creator>Lurie, Galina</creator><creator>Wilkens, Lynne R.</creator><creator>Carney, Michael E.</creator><creator>Wang‐Gohrke, Shan</creator><creator>Doherty, Jennifer A.</creator><creator>Rossing, Mary Anne</creator><creator>Beckmann, Matthias W.</creator><creator>Thiel, Falk C.</creator><creator>Ekici, Arif B.</creator><creator>Chen, Xiaoqing</creator><creator>Beesley, Jonathan</creator><creator>Gronwald, Jacek</creator><creator>Fasching, Peter A.</creator><creator>Chang‐Claude, Jenny</creator><creator>Goodman, Marc T.</creator><creator>Chenevix‐Trench, Georgia</creator><creator>Berchuck, Andrew</creator><creator>Pearce, C. 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Leigh ; Whittemore, Alice S. ; Menon, Usha ; Pharoah, Paul D.P. ; Gayther, Simon A. ; Ramus, Susan J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4444-b214e5d7f5cdab6cf4b9e8d0c12f6bedd4d013a767cb5ac607240aa8344bb0b43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Alleles</topic><topic>association studies</topic><topic>Biological and medical sciences</topic><topic>Female</topic><topic>Female genital diseases</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Loss of Heterozygosity</topic><topic>Medical sciences</topic><topic>Neoplasms, Glandular and Epithelial - genetics</topic><topic>Nuclear Proteins - genetics</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Ovarian Neoplasms - genetics</topic><topic>polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Risk Factors</topic><topic>risk of ovarian cancer</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Notaridou, Maria</creatorcontrib><creatorcontrib>Quaye, Lydia</creatorcontrib><creatorcontrib>Dafou, Dimitra</creatorcontrib><creatorcontrib>Jones, Chris</creatorcontrib><creatorcontrib>Song, Honglin</creatorcontrib><creatorcontrib>Høgdall, Estrid</creatorcontrib><creatorcontrib>Kjaer, Susanne K.</creatorcontrib><creatorcontrib>Christensen, Lise</creatorcontrib><creatorcontrib>Høgdall, Claus</creatorcontrib><creatorcontrib>Blaakaer, Jan</creatorcontrib><creatorcontrib>McGuire, Valerie</creatorcontrib><creatorcontrib>Wu, Anna H.</creatorcontrib><creatorcontrib>Van Den Berg, David J.</creatorcontrib><creatorcontrib>Pike, Malcolm C.</creatorcontrib><creatorcontrib>Gentry‐Maharaj, Aleksandra</creatorcontrib><creatorcontrib>Wozniak, Eva</creatorcontrib><creatorcontrib>Sher, Tanya</creatorcontrib><creatorcontrib>Jacobs, Ian J.</creatorcontrib><creatorcontrib>Tyrer, Jonathan</creatorcontrib><creatorcontrib>Schildkraut, Joellen M.</creatorcontrib><creatorcontrib>Moorman, Patricia G.</creatorcontrib><creatorcontrib>Iversen, Edwin S.</creatorcontrib><creatorcontrib>Jakubowska, Anna</creatorcontrib><creatorcontrib>Mędrek, Krzysztof</creatorcontrib><creatorcontrib>Lubiński, Jan</creatorcontrib><creatorcontrib>Ness, Roberta B.</creatorcontrib><creatorcontrib>Moysich, Kirsten B.</creatorcontrib><creatorcontrib>Lurie, Galina</creatorcontrib><creatorcontrib>Wilkens, Lynne R.</creatorcontrib><creatorcontrib>Carney, Michael E.</creatorcontrib><creatorcontrib>Wang‐Gohrke, Shan</creatorcontrib><creatorcontrib>Doherty, Jennifer A.</creatorcontrib><creatorcontrib>Rossing, Mary Anne</creatorcontrib><creatorcontrib>Beckmann, Matthias W.</creatorcontrib><creatorcontrib>Thiel, Falk C.</creatorcontrib><creatorcontrib>Ekici, Arif B.</creatorcontrib><creatorcontrib>Chen, Xiaoqing</creatorcontrib><creatorcontrib>Beesley, Jonathan</creatorcontrib><creatorcontrib>Gronwald, Jacek</creatorcontrib><creatorcontrib>Fasching, Peter A.</creatorcontrib><creatorcontrib>Chang‐Claude, Jenny</creatorcontrib><creatorcontrib>Goodman, Marc T.</creatorcontrib><creatorcontrib>Chenevix‐Trench, Georgia</creatorcontrib><creatorcontrib>Berchuck, Andrew</creatorcontrib><creatorcontrib>Pearce, C. Leigh</creatorcontrib><creatorcontrib>Whittemore, Alice S.</creatorcontrib><creatorcontrib>Menon, Usha</creatorcontrib><creatorcontrib>Pharoah, Paul D.P.</creatorcontrib><creatorcontrib>Gayther, Simon A.</creatorcontrib><creatorcontrib>Ramus, Susan J.</creatorcontrib><creatorcontrib>Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer)</creatorcontrib><creatorcontrib>Ovarian Cancer Association Consortium</creatorcontrib><creatorcontrib>The Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer)</creatorcontrib><creatorcontrib>on behalf of the Ovarian Cancer Association Consortium</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>International journal of cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Notaridou, Maria</au><au>Quaye, Lydia</au><au>Dafou, Dimitra</au><au>Jones, Chris</au><au>Song, Honglin</au><au>Høgdall, Estrid</au><au>Kjaer, Susanne K.</au><au>Christensen, Lise</au><au>Høgdall, Claus</au><au>Blaakaer, Jan</au><au>McGuire, Valerie</au><au>Wu, Anna H.</au><au>Van Den Berg, David J.</au><au>Pike, Malcolm C.</au><au>Gentry‐Maharaj, Aleksandra</au><au>Wozniak, Eva</au><au>Sher, Tanya</au><au>Jacobs, Ian J.</au><au>Tyrer, Jonathan</au><au>Schildkraut, Joellen M.</au><au>Moorman, Patricia G.</au><au>Iversen, Edwin S.</au><au>Jakubowska, Anna</au><au>Mędrek, Krzysztof</au><au>Lubiński, Jan</au><au>Ness, Roberta B.</au><au>Moysich, Kirsten B.</au><au>Lurie, Galina</au><au>Wilkens, Lynne R.</au><au>Carney, Michael E.</au><au>Wang‐Gohrke, Shan</au><au>Doherty, Jennifer A.</au><au>Rossing, Mary Anne</au><au>Beckmann, Matthias W.</au><au>Thiel, Falk C.</au><au>Ekici, Arif B.</au><au>Chen, Xiaoqing</au><au>Beesley, Jonathan</au><au>Gronwald, Jacek</au><au>Fasching, Peter A.</au><au>Chang‐Claude, Jenny</au><au>Goodman, Marc T.</au><au>Chenevix‐Trench, Georgia</au><au>Berchuck, Andrew</au><au>Pearce, C. Leigh</au><au>Whittemore, Alice S.</au><au>Menon, Usha</au><au>Pharoah, Paul D.P.</au><au>Gayther, Simon A.</au><au>Ramus, Susan J.</au><aucorp>Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer)</aucorp><aucorp>Ovarian Cancer Association Consortium</aucorp><aucorp>The Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer)</aucorp><aucorp>on behalf of the Ovarian Cancer Association Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer</atitle><jtitle>International journal of cancer</jtitle><addtitle>Int J Cancer</addtitle><date>2011-05-01</date><risdate>2011</risdate><volume>128</volume><issue>9</issue><spage>2063</spage><epage>2074</epage><pages>2063-2074</pages><issn>0020-7136</issn><eissn>1097-0215</eissn><coden>IJCNAW</coden><abstract>Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell‐mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tumorogenicity in ovarian cancer cell lines; AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1 and STAG3. Sixty‐three tagging single nucleotide polymorphisms (tSNPs) in these genes were genotyped in 1,799 invasive ovarian cancer cases and 3,045 controls to look for associations with disease risk. Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15–1.74) and the HomOR = 1.63 (1.10–1.42), p‐trend = 0.0002] and [HetOR = 0.97 (0.80–1.17), HomOR = 0.74 (0.58–0.93), p‐trend = 0.009], respectively. We genotyped rs13063604 and rs7650365 in an additional 4,590 cases and 6,031 controls from ten sites from the United States, Europe and Australia; however, neither SNP was significant in Stage 2. We also evaluated the potential role of tSNPs in these nine genes in ovarian cancer development by testing for allele‐specific loss of heterozygosity (LOH) in 286 primary ovarian tumours. We found frequent LOH for tSNPs in AXIN2, AKTIP and RGC32 (64, 46 and 34%, respectively) and one SNP, rs1637001, in STAG3 showed significant allele‐specific LOH with loss of the common allele in 94% of informative tumours (p = 0.015). Array comparative genomic hybridisation indicated that this nonrandom allelic imbalance was due to amplification of the rare allele. In conclusion, we show evidence for the involvement of a common allele of STAG3 in the development of epithelial ovarian cancer.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>20635389</pmid><doi>10.1002/ijc.25554</doi><tpages>12</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0020-7136 |
| ispartof | International journal of cancer, 2011-05, Vol.128 (9), p.2063-2074 |
| issn | 0020-7136 1097-0215 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3098608 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Alleles association studies Biological and medical sciences Female Female genital diseases Genetic Predisposition to Disease - genetics Gynecology. Andrology. Obstetrics Humans Loss of Heterozygosity Medical sciences Neoplasms, Glandular and Epithelial - genetics Nuclear Proteins - genetics Oligonucleotide Array Sequence Analysis Ovarian Neoplasms - genetics polymorphism Polymorphism, Single Nucleotide Risk Factors risk of ovarian cancer Tumors |
| title | Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer |
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