Citations 5
Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer
Annibali, Daniela , Ashton, Katie A. , Auer, Paul L. , Beckmann, Matthias W. , Black, Amanda , Brinton, Louise A. , Buchanan, Daniel D. , Chen, Chu , Chen, Maxine , Cheng, Timothy, Crous‐Bou, Marta , Vivo, Immaculata De , Dörk, Thilo , Dowdy, Sean C. , Easton, Douglas F. , Ekici, Arif B. , Fasching, Peter A. , García‐Closas, Montserrat , Gaudet, Mia M. , Goode, Ellen L. , Gorman, Maggie, Haiman, Christopher A. , Hankinson, Susan E. , Hein, Alexander , Hillemanns, Peter , Hodgson, Shirley, Høivik, Erling A. , Holliday, Elizabeth , Hunter, David J., Lambrechts, Diether , Liang, Xiaolin , Lindblom, Annika , Lissowska, Jolanta , Magliocco, Anthony M., Martin, Lynn , McEvoy, Mark , Mints, Miriam, Nassir, Rami , Otton, Geoffrey, Palles, Claire , Pooler, Loreall , Proietto, Tony, Rübner, Matthias, Runnebaum, Ingo B. , Sacerdote, Carlotta , Sarto, Gloria E., Scott, Rodney J. , Shah, Mitul , Sheng, Xin , Tomlinson, Ian , Trovik, Jone , Wang, Zhaoming , Wentzensen, Nicolas , Xia, Lucy , Webb, Penelope M. , Thompson, Deborah J. , Glubb, Dylan M., O’Mara, Tracy A. , Lambrechts, Diether , Buchanan, Daniel D , Chen, Chu , De Vivo, Immaculata , Dörk, Thilo , Fasching, Peter A , Friedenreich, Christine M , Gaudet, Mia M , Goode, Ellen L , Lu, Lingeng , Sacerdote, Carlotta , Shu, Xiao-Ou , Wang, Zhaoming , Wentzensen, Nicolas , Xiang, Yong‐Bing , Yu, Herbert , Spurdle, Amanda B , O'Mara, Tracy A , Lambrechts, Diether , Webb, Penelope M , Hein, Alexander , Hillemanns, Peter , Lissowska, Jolanta , Lambrechts, Diether , García-Closas, Montserrat , Ekici, Arif B , Nassir, Rami , Palles, Claire , Lindblom, Annika , Kho, Pik Fang , Amant, Frédéric , Attia, John , Chanock, Stephen Jacob , Cook, Linda S. , Czene, Kamila , Dennis, Joe , Dunning, Alison M. , Dürst, Matthias , Fridley, Brooke L. , Giles, Graham G. , Hall, Per N , Hankinson, Susan E. , Jones, Angela, Kraft, Peter , Krakstad, Camilla , Marchand, Loı̈c Le , Long, Jirong , Milne, Roger L. , Mints, Miriam , Rebbeck, Timothy R. , Renner, Stefan P. , Risch, Harvey A. , Schumacher, Fredrick R. , Setiawan, Veronica Wendy , Shu, Xiao‐Ou , Southey, Melissa C. , Tham, Emma , Turman, Constance , Tyrer, Jonathan P. , Berg, David Van Den , Yang, Hannah , Yu, Kai , Zheng, Wei , Spurdle, Amanda B.
International Journal of Cancer | July 13, 2020 | Volume: 148 | Issue: 2 | Pages: 307-319
Abstract Blood lipids have been associated with the development of a range of cancers, including breast, lung and colorectal cancer. For endometrial cancer, observational studies have reported inconsistent associations between blood lipids and cancer risk. To reduce biases from unmeasured confounding, we performed a bidirectional, two‐sample Mendelian randomization analysis to investigate the relationship between levels of three blood lipids (low‐density lipoprotein [LDL] and high‐density lipoprotein [HDL] cholesterol, and triglycerides) and endometrial cancer risk. Genetic variants associated with each of these blood lipid levels ( P < 5 × 10 −8 ) were identified as instrumental variables, and assessed using genome‐wide association study data from the Endometrial Cancer Association Consortium (12 906 cases and 108 979 controls) and the Global Lipids Genetic Consortium (n = 188 578). Mendelian randomization analyses found genetically raised LDL cholesterol levels to be associated with lower risks of endometrial cancer of all histologies combined, and of endometrioid and non‐endometrioid subtypes. Conversely, higher genetically predicted HDL cholesterol levels were associated with increased risk of non‐endometrioid endometrial cancer. After accounting for the potential confounding role of obesity (as measured by genetic variants associated with body mass index), the association between genetically predicted increased LDL cholesterol levels and lower endometrial cancer risk remained significant, especially for non‐endometrioid endometrial cancer. There was no evidence to support a role for triglycerides in endometrial cancer development. Our study supports a role for LDL and HDL cholesterol in the development of non‐endometrioid endometrial cancer. Further studies are required to understand the mechanisms underlying these findings.
Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer
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JAMA | April 7, 2015 | Volume: 313 | Issue: 13 | Pages: 1347
Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk
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Human Molecular Genetics | November 6, 2014 | Volume: 24 | Issue: 5 | Pages: 1478-1492
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
Cox, David G. , Simard, Jacques , Sinnett, Daniel , Hamdi, Yosr , Soucy, Penny, Ouimet, Manon , Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley , Healey, Sue, Greene, Mark H. , Mai, Phuong L., Andrulis, Irene L. , Network, Ontario Cancer Genetics, Thomassen, Mads , Gerdes, Anne‐Marie , Caligo, Maria A. , Friedman, Eitan , Laitman, Yael , Paluch, Shani Shimon, Borg, Åke , Karlsson, Per , Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Collaborators, SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Hamann, Ute, Rookus, Matti A. , Ouweland, Ans M.W. van den, Ausems, Margreet G.E.M. , Aalfs, Cora M. , Gille, Hans J. J. P., HEBON, EMBRACE, Peock, Susan, Frost, Debra, Evans, D. 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Human Molecular Genetics | September 3, 2011 | Volume: 20 | Issue: 23 | Pages: 4732-4747
AURKAF31I Polymorphism and Breast Cancer Risk inBRCA1andBRCA2Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study
Sinilnikova, Olga M., Vierkant, Robert A. , Fredericksen, Zachary S., Coupier, Isabelle, Hughes, David J. , Hardouin, Agnès, Berthet, Pascaline, Peock, Susan, Cook, Margaret , Baynes, Caroline, Hodgson, Shirley, Porteous, Mary, Jakubowska, Anna , Spurdle, Amanda B. , kConFab, Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph , Meindl, Alfons , Sutter, Christian , Horst, Jürgen, Schaefer, Dieter, Offit, Kenneth, Kirchhoff, Tomas , Andrulis, Irene L. , Ilyushik, Eduard, Glendon, Gordon, Vasen, Hans F. A. , Borg, Åke , Backenhorn, Katja, Struewing, Jeffery P. , Greene, Mark H. , Nathanson, Katherine L. , Zikán, Michal , Foretová, Lenka , Sellers, Thomas A. , Lindor, Noralane M. , Nevanlinna, Heli , Tommiska, Johanna , Aittomäki, Kristiina, Hamann, Ute , Rashid, Muhammad Usman , Torres, Diana , Simard, Jacques , Durocher, Francine , Lynch, Henry T., Weitzel, Jeffrey N. , Olopade, Olufunmilayo I. , Narod, Steven A. , Daly, Mary B., Easton, Douglas F., Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Evans, D. Gareth , Thorne, Heather , Couch, Fergus J. , Pankratz, V. Shane , Stoppa‐Lyonnet, Dominique , Morrison, Patrick J. , Lubiński, Jan , Gronwald, Jacek , kConFab, Meindl, Alfons , Devilee, Peter , Vreeswijk, Maaike P.G. , Neuhausen, Susan L. , Rebbeck, Timothy R. , Domchek, Susan M. , Wagner, Theresa Maria , Garber, Judy E. , Szabo, Csilla I. , Olson, Janet E. , Guénard, Frédéric , Isaacs, Claudine , Godwin, Andrew K. , Tomlinson, Gail Elizabeth , Nevanlinna, H , Spurdle, Amanda B , Vierkant, Robert A , Weitzel, Jeffrey N , Evans, D Gareth , Olopade, Olufunmilayo I , Jakubowska, Anna , Torres, Diana , Nathanson, Katherine L , Engel, Christoph , Simard, Jacques , Chenevix-Trench, Georgia , Rashid, Muhammad U , Hughes, David J
Cancer Epidemiology, Biomarkers & Prevention | July 12, 2007 | Volume: 16 | Issue: 7 | Pages: 1416-1421
AbstractThe AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2. Consortium of Investigators of Modifiers of BRCA1/2 was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4,935 BRCA1 and 2,241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations was genotyped for F31I. Overall, homozygosity for the 31I allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined [hazard ratio (HR), 0.91; 95% confidence interval (95% CI), 0.77-1.06]. Similarly, no significant association was seen in BRCA1 (HR, 0.90; 95% CI, 0.75-1.08) or BRCA2 carriers (HR, 0.93; 95% CI, 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers. (Cancer Epidemiol Biomarkers Prev 2007;16(7):1416–21)