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Your search keyword '"Whittemore, Alice S"' showing total 39 results
Start Over Author "Whittemore, Alice S" Publisher oxford university press (oup)
39 results on '"Whittemore, Alice S"'

1. Racial and ethnic differences in epithelial ovarian cancer risk: an analysis from the Ovarian Cancer Association Consortium

Author

Meagher, Nicola S, primary, White, Kami K, additional, Wilkens, Lynne R, additional, Bandera, Elisa V, additional, Berchuck, Andrew, additional, Carney, Michael E, additional, Cramer, Daniel W, additional, Cushing-Haugen, Kara L, additional, Jordan, Susan, additional, Kaufmann, Scott H, additional, Le, Nhu D, additional, Pike, Malcolm C, additional, Riggan, Marjorie, additional, Qin, Bo, additional, Rothstein, Joseph H, additional, Titus, Linda, additional, Winham, Stacey J, additional, Anton-Culver, Hoda, additional, Doherty, Jennifer A, additional, Goode, Ellen L, additional, Pearce, Celeste Leigh, additional, Risch, Harvey A, additional, AOCS Group, on behalf of the, additional, Webb, Penelope M, additional, Cook, Linda S, additional, Goodman, Marc T, additional, Harris, Holly R, additional, Le Marchand, Loic, additional, McGuire, Valerie, additional, Pharoah, Paul D P, additional, Sarink, Danja, additional, Schildkraut, Joellen M, additional, Sieh, Weiva, additional, Terry, Kathryn L, additional, Thompson, Pamela J, additional, Whittemore, Alice S, additional, Wu, Anna H, additional, Peres, Lauren C, additional, and Merritt, Melissa A, additional

Published
2024
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2. Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool

Author

Phillips, Kelly-Anne, Liao, Yuyan, Milne, Roger L, MacInnis, Robert J, Collins, Ian M, Buchsbaum, Richard, Weideman, Prue C, Bickerstaffe, Adrian, Nesci, Stephanie, Chung, Wendy K, Southey, Melissa C, Knight, Julia A, Whittemore, Alice S, Dite, Gillian S, Goldgar, David, Giles, Graham G, Glendon, Gord, Cuzick, Jack, Antoniou, Antonis C, Andrulis, Irene L, John, Esther M, Daly, Mary B, Buys, Saundra S, Hopper, John L, Terry, Mary Beth, kConFab Investigators, Phillips, Kelly-Anne [0000-0002-0475-1771], Milne, Roger L [0000-0001-5764-7268], Collins, Ian M [0000-0001-6936-0942], Weideman, Prue C [0000-0002-3672-5201], Dite, Gillian S [0000-0002-2448-2548], Giles, Graham G [0000-0003-4946-9099], and Apollo - University of Cambridge Repository

Subjects
kConFab Investigators
Abstract

BACKGROUND: iPrevent is an online breast cancer (BC) risk management decision support tool. It uses an internal switching algorithm, based on a woman's risk factor data, to estimate her absolute BC risk using either the International Breast Cancer Intervention Study (IBIS) version 7.02, or Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm version 3 models, and then provides tailored risk management information. This study assessed the accuracy of the 10-year risk estimates using prospective data. METHODS: iPrevent-assigned 10-year invasive BC risk was calculated for 15 732 women aged 20-70 years and without BC at recruitment to the Prospective Family Study Cohort. Calibration, the ratio of the expected (E) number of BCs to the observed (O) number and discriminatory accuracy were assessed. RESULTS: During the 10 years of follow-up, 619 women (3.9%) developed BC compared with 702 expected (E/O = 1.13; 95% confidence interval [CI] =1.05 to 1.23). For women younger than 50 years, 50 years and older, and BRCA1/2-mutation carriers and noncarriers, E/O was 1.04 (95% CI = 0.93 to 1.16), 1.24 (95% CI = 1.11 to 1.39), 1.13 (95% CI = 0.96 to 1.34), and 1.13 (95% CI = 1.04 to 1.24), respectively. The C-statistic was 0.70 (95% CI = 0.68 to 0.73) overall and 0.74 (95% CI = 0.71 to 0.77), 0.63 (95% CI = 0.59 to 0.66), 0.59 (95% CI = 0.53 to 0.64), and 0.65 (95% CI = 0.63 to 0.68), respectively, for the subgroups above. Applying the newer IBIS version 8.0b in the iPrevent switching algorithm improved calibration overall (E/O = 1.06, 95% CI = 0.98 to 1.15) and in all subgroups, without changing discriminatory accuracy. CONCLUSIONS: For 10-year BC risk, iPrevent had good discriminatory accuracy overall and was well calibrated for women aged younger than 50 years. Calibration may be improved in the future by incorporating IBIS version 8.0b.

Published
2019

3. Reproductive Factors and Mammographic Density: Associations Among 24,840 Women and Comparison of Studies Using Digitized Film-Screen Mammography and Full-Field Digital Mammography

Author

Alexeeff, Stacey E, primary, Odo, Nnaemeka U, additional, McBride, Russell, additional, McGuire, Valerie, additional, Achacoso, Ninah, additional, Rothstein, Joseph H, additional, Lipson, Jafi A, additional, Liang, Rhea Y, additional, Acton, Luana, additional, Yaffe, Martin J, additional, Whittemore, Alice S, additional, Rubin, Daniel L, additional, Sieh, Weiva, additional, and Habel, Laurel A, additional

Published
2019
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4. FIRE: functional inference of genetic variants that regulate gene expression

Author

Ioannidis, Nilah M, primary, Davis, Joe R, additional, DeGorter, Marianne K, additional, Larson, Nicholas B, additional, McDonnell, Shannon K, additional, French, Amy J, additional, Battle, Alexis J, additional, Hastie, Trevor J, additional, Thibodeau, Stephen N, additional, Montgomery, Stephen B, additional, Bustamante, Carlos D, additional, Sieh, Weiva, additional, and Whittemore, Alice S, additional

Published
2017
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5. Risk Prediction for Epithelial Ovarian Cancer in 11 United States–Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci

Author

Clyde, Merlise A., primary, Palmieri Weber, Rachel, additional, Iversen, Edwin S., additional, Poole, Elizabeth M., additional, Doherty, Jennifer A., additional, Goodman, Marc T., additional, Ness, Roberta B., additional, Risch, Harvey A., additional, Rossing, Mary Anne, additional, Terry, Kathryn L., additional, Wentzensen, Nicolas, additional, Whittemore, Alice S., additional, Anton-Culver, Hoda, additional, Bandera, Elisa V., additional, Berchuck, Andrew, additional, Carney, Michael E., additional, Cramer, Daniel W., additional, Cunningham, Julie M., additional, Cushing-Haugen, Kara L., additional, Edwards, Robert P., additional, Fridley, Brooke L., additional, Goode, Ellen L., additional, Lurie, Galina, additional, McGuire, Valerie, additional, Modugno, Francesmary, additional, Moysich, Kirsten B., additional, Olson, Sara H., additional, Pearce, Celeste Leigh, additional, Pike, Malcolm C., additional, Rothstein, Joseph H., additional, Sellers, Thomas A., additional, Sieh, Weiva, additional, Stram, Daniel, additional, Thompson, Pamela J., additional, Vierkant, Robert A., additional, Wicklund, Kristine G., additional, Wu, Anna H., additional, Ziogas, Argyrios, additional, Tworoger, Shelley S., additional, and Schildkraut, Joellen M., additional

Published
2016
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6. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

Author

Ramus, Susan J., primary, Song, Honglin, additional, Dicks, Ed, additional, Tyrer, Jonathan P., additional, Rosenthal, Adam N., additional, Intermaggio, Maria P., additional, Fraser, Lindsay, additional, Gentry-Maharaj, Aleksandra, additional, Hayward, Jane, additional, Philpott, Susan, additional, Anderson, Christopher, additional, Edlund, Christopher K., additional, Conti, David, additional, Harrington, Patricia, additional, Barrowdale, Daniel, additional, Bowtell, David D., additional, Alsop, Kathryn, additional, Mitchell, Gillian, additional, Cicek, Mine S., additional, Cunningham, Julie M., additional, Fridley, Brooke L., additional, Alsop, Jennifer, additional, Jimenez-Linan, Mercedes, additional, Poblete, Samantha, additional, Lele, Shashi, additional, Sucheston-Campbell, Lara, additional, Moysich, Kirsten B., additional, Sieh, Weiva, additional, McGuire, Valerie, additional, Lester, Jenny, additional, Bogdanova, Natalia, additional, Dürst, Matthias, additional, Hillemanns, Peter, additional, Odunsi, Kunle, additional, Whittemore, Alice S., additional, Karlan, Beth Y, additional, Dörk, Thilo, additional, Goode, Ellen L., additional, Menon, Usha, additional, Jacobs, Ian J., additional, Antoniou, Antonis C., additional, Pharoah, Paul D. P., additional, and Gayther, Simon A., additional

Published
2015
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7. Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC)

Author

Terry, Mary Beth, primary, Phillips, Kelly-Anne, additional, Daly, Mary B, additional, John, Esther M, additional, Andrulis, Irene L, additional, Buys, Saundra S, additional, Goldgar, David E, additional, Knight, Julia A, additional, Whittemore, Alice S, additional, Chung, Wendy K, additional, Apicella, Carmel, additional, and Hopper, John L, additional

Published
2015
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8. Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study

Author

Zhang, Chenan, primary, Doherty, Jennifer A., additional, Burgess, Stephen, additional, Hung, Rayjean J., additional, Lindström, Sara, additional, Kraft, Peter, additional, Gong, Jian, additional, Amos, Christopher I., additional, Sellers, Thomas A., additional, Monteiro, Alvaro N.A., additional, Chenevix-Trench, Georgia, additional, Bickeböller, Heike, additional, Risch, Angela, additional, Brennan, Paul, additional, Mckay, James D., additional, Houlston, Richard S., additional, Landi, Maria Teresa, additional, Timofeeva, Maria N., additional, Wang, Yufei, additional, Heinrich, Joachim, additional, Kote-Jarai, Zsofia, additional, Eeles, Rosalind A., additional, Muir, Ken, additional, Wiklund, Fredrik, additional, Grönberg, Henrik, additional, Berndt, Sonja I., additional, Chanock, Stephen J., additional, Schumacher, Fredrick, additional, Haiman, Christopher A., additional, Henderson, Brian E., additional, Amin Al Olama, Ali, additional, Andrulis, Irene L., additional, Hopper, John L., additional, Chang-Claude, Jenny, additional, John, Esther M., additional, Malone, Kathleen E., additional, Gammon, Marilie D., additional, Ursin, Giske, additional, Whittemore, Alice S., additional, Hunter, David J., additional, Gruber, Stephen B., additional, Knight, Julia A., additional, Hou, Lifang, additional, Le Marchand, Loic, additional, Newcomb, Polly A., additional, Hudson, Thomas J., additional, Chan, Andrew T., additional, Li, Li, additional, Woods, Michael O., additional, Ahsan, Habibul, additional, and Pierce, Brandon L., additional

Published
2015
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9. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author

Mavaddat, Nasim, primary, Pharoah, Paul D. P., additional, Michailidou, Kyriaki, additional, Tyrer, Jonathan, additional, Brook, Mark N., additional, Bolla, Manjeet K., additional, Wang, Qin, additional, Dennis, Joe, additional, Dunning, Alison M., additional, Shah, Mitul, additional, Luben, Robert, additional, Brown, Judith, additional, Bojesen, Stig E., additional, Nordestgaard, Børge G., additional, Nielsen, Sune F., additional, Flyger, Henrik, additional, Czene, Kamila, additional, Darabi, Hatef, additional, Eriksson, Mikael, additional, Peto, Julian, additional, dos-Santos-Silva, Isabel, additional, Dudbridge, Frank, additional, Johnson, Nichola, additional, Schmidt, Marjanka K., additional, Broeks, Annegien, additional, Verhoef, Senno, additional, Rutgers, Emiel J., additional, Swerdlow, Anthony, additional, Ashworth, Alan, additional, Orr, Nick, additional, Schoemaker, Minouk J., additional, Figueroa, Jonine, additional, Chanock, Stephen J., additional, Brinton, Louise, additional, Lissowska, Jolanta, additional, Couch, Fergus J., additional, Olson, Janet E., additional, Vachon, Celine, additional, Pankratz, Vernon S., additional, Lambrechts, Diether, additional, Wildiers, Hans, additional, Van Ongeval, Chantal, additional, van Limbergen, Erik, additional, Kristensen, Vessela, additional, Grenaker Alnæs, Grethe, additional, Nord, Silje, additional, Borresen-Dale, Anne-Lise, additional, Nevanlinna, Heli, additional, Muranen, Taru A., additional, Aittomäki, Kristiina, additional, Blomqvist, Carl, additional, Chang-Claude, Jenny, additional, Rudolph, Anja, additional, Seibold, Petra, additional, Flesch-Janys, Dieter, additional, Fasching, Peter A., additional, Haeberle, Lothar, additional, Ekici, Arif B., additional, Beckmann, Matthias W., additional, Burwinkel, Barbara, additional, Marme, Frederik, additional, Schneeweiss, Andreas, additional, Sohn, Christof, additional, Trentham-Dietz, Amy, additional, Newcomb, Polly, additional, Titus, Linda, additional, Egan, Kathleen M., additional, Hunter, David J., additional, Lindstrom, Sara, additional, Tamimi, Rulla M., additional, Kraft, Peter, additional, Rahman, Nazneen, additional, Turnbull, Clare, additional, Renwick, Anthony, additional, Seal, Sheila, additional, Li, Jingmei, additional, Liu, Jianjun, additional, Humphreys, Keith, additional, Benitez, Javier, additional, Pilar Zamora, M., additional, Arias Perez, Jose Ignacio, additional, Menéndez, Primitiva, additional, Jakubowska, Anna, additional, Lubinski, Jan, additional, Jaworska-Bieniek, Katarzyna, additional, Durda, Katarzyna, additional, Bogdanova, Natalia V., additional, Antonenkova, Natalia N., additional, Dörk, Thilo, additional, Anton-Culver, Hoda, additional, Neuhausen, Susan L., additional, Ziogas, Argyrios, additional, Bernstein, Leslie, additional, Devilee, Peter, additional, Tollenaar, Robert A. E. M., additional, Seynaeve, Caroline, additional, van Asperen, Christi J., additional, Cox, Angela, additional, Cross, Simon S., additional, Reed, Malcolm W. R., additional, Khusnutdinova, Elza, additional, Bermisheva, Marina, additional, Prokofyeva, Darya, additional, Takhirova, Zalina, additional, Meindl, Alfons, additional, Schmutzler, Rita K., additional, Sutter, Christian, additional, Yang, Rongxi, additional, Schürmann, Peter, additional, Bremer, Michael, additional, Christiansen, Hans, additional, Park-Simon, Tjoung-Won, additional, Hillemanns, Peter, additional, Guénel, Pascal, additional, Truong, Thérèse, additional, Menegaux, Florence, additional, Sanchez, Marie, additional, Radice, Paolo, additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Pensotti, Valeria, additional, Hopper, John L., additional, Tsimiklis, Helen, additional, Apicella, Carmel, additional, Southey, Melissa C., additional, Brauch, Hiltrud, additional, Brüning, Thomas, additional, Ko, Yon-Dschun, additional, Sigurdson, Alice J., additional, Doody, Michele M., additional, Hamann, Ute, additional, Torres, Diana, additional, Ulmer, Hans-Ulrich, additional, Försti, Asta, additional, Sawyer, Elinor J., additional, Tomlinson, Ian, additional, Kerin, Michael J., additional, Miller, Nicola, additional, Andrulis, Irene L., additional, Knight, Julia A., additional, Glendon, Gord, additional, Marie Mulligan, Anna, additional, Chenevix-Trench, Georgia, additional, Balleine, Rosemary, additional, Giles, Graham G., additional, Milne, Roger L., additional, McLean, Catriona, additional, Lindblom, Annika, additional, Margolin, Sara, additional, Haiman, Christopher A., additional, Henderson, Brian E., additional, Schumacher, Fredrick, additional, Le Marchand, Loic, additional, Eilber, Ursula, additional, Wang-Gohrke, Shan, additional, Hooning, Maartje J., additional, Hollestelle, Antoinette, additional, van den Ouweland, Ans M. W., additional, Koppert, Linetta B., additional, Carpenter, Jane, additional, Clarke, Christine, additional, Scott, Rodney, additional, Mannermaa, Arto, additional, Kataja, Vesa, additional, Kosma, Veli-Matti, additional, Hartikainen, Jaana M., additional, Brenner, Hermann, additional, Arndt, Volker, additional, Stegmaier, Christa, additional, Karina Dieffenbach, Aida, additional, Winqvist, Robert, additional, Pylkäs, Katri, additional, Jukkola-Vuorinen, Arja, additional, Grip, Mervi, additional, Offit, Kenneth, additional, Vijai, Joseph, additional, Robson, Mark, additional, Rau-Murthy, Rohini, additional, Dwek, Miriam, additional, Swann, Ruth, additional, Annie Perkins, Katherine, additional, Goldberg, Mark S., additional, Labrèche, France, additional, Dumont, Martine, additional, Eccles, Diana M., additional, Tapper, William J., additional, Rafiq, Sajjad, additional, John, Esther M., additional, Whittemore, Alice S., additional, Slager, Susan, additional, Yannoukakos, Drakoulis, additional, Toland, Amanda E., additional, Yao, Song, additional, Zheng, Wei, additional, Halverson, Sandra L., additional, González-Neira, Anna, additional, Pita, Guillermo, additional, Rosario Alonso, M., additional, Álvarez, Nuria, additional, Herrero, Daniel, additional, Tessier, Daniel C., additional, Vincent, Daniel, additional, Bacot, Francois, additional, Luccarini, Craig, additional, Baynes, Caroline, additional, Ahmed, Shahana, additional, Maranian, Mel, additional, Healey, Catherine S., additional, Simard, Jacques, additional, Hall, Per, additional, Easton, Douglas F., additional, and Garcia-Closas, Montserrat, additional

Published
2015
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10. Tubal ligation and risk of ovarian cancer subtypes: a pooled analysis of case-control studies

Author

Sieh, Weiva, primary, Salvador, Shannon, additional, McGuire, Valerie, additional, Weber, Rachel Palmieri, additional, Terry, Kathryn L, additional, Rossing, Mary Anne, additional, Risch, Harvey, additional, Wu, Anna H, additional, Webb, Penelope M, additional, Moysich, Kirsten, additional, Doherty, Jennifer A, additional, Felberg, Anna, additional, Miller, Dianne, additional, Jordan, Susan J, additional, Goodman, Marc T, additional, Lurie, Galina, additional, Chang-Claude, Jenny, additional, Rudolph, Anja, additional, Kjær, Susanne Krüger, additional, Jensen, Allan, additional, Høgdall, Estrid, additional, Bandera, Elisa V, additional, Olson, Sara H, additional, King, Melony G, additional, Rodriguez-Rodriguez, Lorna, additional, Kiemeney, Lambertus A, additional, Marees, Tamara, additional, Massuger, Leon F, additional, van Altena, Anne M, additional, Ness, Roberta B, additional, Cramer, Daniel W, additional, Pike, Malcolm C, additional, Pearce, Celeste Leigh, additional, Berchuck, Andrew, additional, Schildkraut, Joellen M, additional, and Whittemore, Alice S, additional

Published
2013
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11. The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: an example from the Breast Cancer Family Registry

Author

Milne, Roger L, primary, John, Esther M, additional, Knight, Julia A, additional, Dite, Gillian S, additional, Southey, Melissa C, additional, Giles, Graham G, additional, Apicella, Carmel, additional, West, Dee W, additional, Andrulis, Irene L, additional, Whittemore, Alice S, additional, and Hopper, John L, additional

Published
2011
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12. Common variants in mismatch repair genes and risk of invasive ovarian cancer

Author

Song, Honglin, primary, Ramus, Susan J., additional, Quaye, Lydia, additional, DiCioccio, Richard A., additional, Tyrer, Jonathan, additional, Lomas, Emma, additional, Shadforth, Danielle, additional, Hogdall, Estrid, additional, Hogdall, Claus, additional, McGuire, Valerie, additional, Whittemore, Alice S., additional, Easton, Douglas F., additional, Ponder, Bruce A.J., additional, Kjaer, Susanne Kruger, additional, Pharoah, Paul D.P., additional, and Gayther, Simon A., additional

Published
2006
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17. Comparison of Dietary Habits, Physical Activity and Body Size among Chinese in North America and China

Author

LEE, MARION M, primary, WU-WILLIAMS, ANNA, additional, WHITTEMORE, ALICE S, additional, ZHENG, SHU, additional, GALLAGHER, RICHARD, additional, TEH, CHONG-ZE, additional, ZHOU, LUN, additional, WANG, XIANGHUI, additional, CHEN, KUN, additional, LING, CHENGDE, additional, JIAO, DENG-AO, additional, JUNG, DEXTER, additional, and PAFFENBARGER, RALPH S, additional

Published
1994
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20. Dietary Intake of Fiber and Decreased Risk of Cancers of the Colon and Rectum: Evidence From the Combined Analysis of 13 Case-Control Studies

Author

Howe, Geoffrey R., primary, Benito, Enrique, additional, Castelleto, Roberto, additional, Cornée, Jacqueline, additional, Estève, Jacques, additional, Gallagher, Richard P., additional, Iscovich, José M., additional, Deng-ao, Jiao, additional, Kaaks, Rudolf, additional, Kune, Gabriel A., additional, Kune, Susan, additional, L'Abbé, Kristan A., additional, Lee, Hin P., additional, Lee, Marion, additional, Miller, Anthony B., additional, Peters, Ruth K., additional, Potter, John D., additional, Riboli, Elio, additional, Slattery, Martha L., additional, Trichopoulos, Dimitrios, additional, Tuyns, Albert, additional, Tzonou, Anastasia, additional, Whittemore, Alice S., additional, Wu-Williams, Anna H., additional, and Shu, Zheng, additional

Published
1992
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26. Common variants at theCHEK2gene locus and risk of epithelial ovarian cancer

Author

Lawrenson, Kate, Iversen, Edwin S., Tyrer, Jonathan, Weber, Rachel Palmieri, Concannon, Patrick, Hazelett, Dennis J., Li, Qiyuan, Marks, Jeffrey R., Berchuck, Andrew, Lee, Janet M., Aben, Katja K.H., Anton-Culver, Hoda, Antonenkova, Natalia, Bandera, Elisa V., Bean, Yukie, Beckmann, Matthias W., Bisogna, Maria, Bjorge, Line, Bogdanova, Natalia, Brinton, Louise A., Brooks-Wilson, Angela, Bruinsma, Fiona, Butzow, Ralf, Campbell, Ian G., Carty, Karen, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Chen, Ann, Chen, Zhihua, Cook, Linda S., Cramer, Daniel William, Cunningham, Julie M., Cybulski, Cezary, Plisiecka-Halasa, Joanna, Dennis, Joe, Dicks, Ed, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Eccles, Diana, Easton, Douglas T., Edwards, Robert P., Eilber, Ursula, Ekici, Arif B., Fasching, Peter A., Fridley, Brooke L., Gao, Yu-Tang, Gentry-Maharaj, Aleksandra, Giles, Graham G., Glasspool, Rosalind, Goode, Ellen L., Goodman, Marc T., Gronwald, Jacek, Harter, Philipp, Hasmad, Hanis Nazihah, Hein, Alexander, Heitz, Florian, Hildebrandt, Michelle A.T., Hillemanns, Peter, Hogdall, Estrid, Hogdall, Claus, Hosono, Satoyo, Jakubowska, Anna, Paul, James, Jensen, Allan, Karlan, Beth Y., Kjaer, Susanne Kruger, Kelemen, Linda E., Kellar, Melissa, Kelley, Joseph L., Kiemeney, Lambertus A., Krakstad, Camilla, Lambrechts, Diether, Lambrechts, Sandrina, Le, Nhu D., Lee, Alice W., Cannioto, Rikki, Leminen, Arto, Lester, Jenny, Levine, Douglas A., Liang, Dong, Lissowska, Jolanta, Lu, Karen, Lubinski, Jan, Lundvall, Lene, Massuger, Leon F.A.G., Matsuo, Keitaro, McGuire, Valerie, McLaughlin, John R., Nevanlinna, Heli, McNeish, Iain, Menon, Usha, Modugno, Francesmary, Moysich, Kirsten B., Narod, Steven A., Nedergaard, Lotte, Ness, Roberta B., Noor Azmi, Mat Adenan, Odunsi, Kunle, Olson, Sara H., Orlow, Irene, Orsulic, Sandra, Pearce, Celeste L., Pejovic, Tanja, Pelttari, Liisa M., Permuth-Wey, Jennifer, Phelan, Catherine M., Pike, Malcolm C., Poole, Elizabeth M., Ramus, Susan J., Risch, Harvey A., Rosen, Barry, Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo B., Rzepecka, Iwona K., Salvesen, Helga B., Budzilowska, Agnieszka, Sellers, Thomas A., Shu, Xiao-Ou, Shvetsov, Yurii B., Siddiqui, Nadeem, Sieh, Weiva, Song, Honglin, Southey, Melissa C., Sucheston, Lara, Tangen, Ingvild L., Teo, Soo-Hwang, Terry, Kathryn Lynne, Thompson, Pamela J., Timorek, Agnieszka, Tworoger, Shelley Slate, Nieuwenhuysen, Els Van, Vergote, Ignace, Vierkant, Robert A., Wang-Gohrke, Shan, Walsh, Christine, Wentzensen, Nicolas, Whittemore, Alice S., Wicklund, Kristine G., Wilkens, Lynne R., Woo, Yin-Ling, Wu, Xifeng, Wu, Anna H., Yang, Hannah, Zheng, Wei, Ziogas, Argyrios, Coetzee, Gerhard A., Freedman, Matthew Lawrence, Monteiro, Alvaro N.A., Moes-Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul D., Gayther, Simon A., and Schildkraut, Joellen M.

Abstract

Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluated associations between common genetic variants [single nucleotide polymorphisms (SNPs) and indels] in DNA repair genes and EOC risk. We genotyped 2896 common variants at 143 gene loci in DNA samples from 15 397 patients with invasive EOC and controls. We found evidence of associations with EOC risk for variants at FANCA, EXO1, E2F4, E2F2, CREB5 and CHEK2 genes (P ≤ 0.001). The strongest risk association was for CHEK2 SNP rs17507066 with serous EOC (P = 4.74 x 10(-7)). Additional genotyping and imputation of genotypes from the 1000 genomes project identified a slightly more significant association for CHEK2 SNP rs6005807 (r (2) with rs17507066 = 0.84, odds ratio (OR) 1.17, 95% CI 1.11-1.24, P = 1.1×10(-7)). We identified 293 variants in the region with likelihood ratios of less than 1:100 for representing the causal variant. Functional annotation identified 25 candidate SNPs that alter transcription factor binding sites within regulatory elements active in EOC precursor tissues. In The Cancer Genome Atlas dataset, CHEK2 gene expression was significantly higher in primary EOCs compared to normal fallopian tube tissues (P = 3.72×10(-8)). We also identified an association between genotypes of the candidate causal SNP rs12166475 (r (2) = 0.99 with rs6005807) and CHEK2 expression (P = 2.70×10(-8)). These data suggest that common variants at 22q12.1 are associated with risk of serous EOC and CHEK2 as a plausible target susceptibility gene., Other Research Unit

Published
2015
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27. Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

Author

Lu, Yi, Cuellar-Partida, Gabriel, Painter, Jodie N., Nyholt, Dale R., Morris, Andrew P., Fasching, Peter A., Hein, Alexander, Burghaus, Stefanie, Beckmann, Matthias W., Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Vanderstichele, Adriaan, Doherty, Jennifer Anne, Rossing, Mary Anne, Wicklund, Kristine G., Chang-Claude, Jenny, Eilber, Ursula, Rudolph, Anja, Wang-Gohrke, Shan, Goodman, Marc T., Bogdanova, Natalia, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter, Runnebaum, Ingo B., Antonenkova, Natalia, Butzow, Ralf, Leminen, Arto, Nevanlinna, Heli, Pelttari, Liisa M., Edwards, Robert P., Kelley, Joseph L., Modugno, Francesmary, Moysich, Kirsten B., Ness, Roberta B., Cannioto, Rikki, Høgdall, Estrid, Jensen, Allan, Giles, Graham G., Bruinsma, Fiona, Kjaer, Susanne K., Hildebrandt, Michelle A.T., Liang, Dong, Lu, Karen H., Wu, Xifeng, Bisogna, Maria, Dao, Fanny, Levine, Douglas A., Cramer, Daniel William, Terry, Kathryn Lynne, Tworoger, Shelley Slate, Missmer, Stacey Ann, Bjorge, Line, Salvesen, Helga B., Kopperud, Reidun K., Bischof, Katharina, Aben, Katja K.H., Kiemeney, Lambertus A., Massuger, Leon F.A.G., Brooks-Wilson, Angela, Olson, Sara H., McGuire, Valerie, Rothstein, Joseph H., Sieh, Weiva, Whittemore, Alice S., Cook, Linda S., Le, Nhu D., Gilks, C. Blake, Gronwald, Jacek, Jakubowska, Anna, Lubinski, Jan, Gawelko, Jan, Song, Honglin, Tyrer, Jonathan P., Wentzensen, Nicolas, Brinton, Louise, Trabert, Britton, Lissowska, Jolanta, Mclaughlin, John R., Narod, Steven A., Phelan, Catherine, Anton-Culver, Hoda, Ziogas, Argyrios, Eccles, Diana, Gayther, Simon A., Gentry-Maharaj, Aleksandra, Menon, Usha, Ramus, Susan J., Wu, Anna H., Dansonka-Mieszkowska, Agnieszka, Kupryjanczyk, Jolanta, Timorek, Agnieszka, Szafron, Lukasz, Cunningham, Julie M., Fridley, Brooke L., Winham, Stacey J., Bandera, Elisa V., Poole, Elizabeth M., Morgan, Terry K., Risch, Harvey A., Goode, Ellen L., Schildkraut, Joellen M., Webb, Penelope M., Pearce, Celeste L., Berchuck, Andrew, Pharoah, Paul D.P., Montgomery, Grant W., Zondervan, Krina T., Chenevix-Trench, Georgia, and MacGregor, Stuart

Abstract

Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18-0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07-0.89 and 0.40, 95% CI = 0.05-0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11-0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci., Other Research Unit

Published
2015
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28. Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool

Author

Phillips, Kelly-Anne, Liao, Yuyan, Milne, Roger L, MacInnis, Robert J, Collins, Ian M, Buchsbaum, Richard, Weideman, Prue C, Bickerstaffe, Adrian, Nesci, Stephanie, Chung, Wendy K, Southey, Melissa C, Knight, Julia A, Whittemore, Alice S, Dite, Gillian S, Goldgar, David, Giles, Graham G, Glendon, Gord, Cuzick, Jack, Antoniou, Antonis C, Andrulis, Irene L, John, Esther M, Daly, Mary B, Buys, Saundra S, Hopper, John L, Terry, Mary Beth, and KConFab Investigators

Subjects
kConFab Investigators, 3. Good health
Abstract

BACKGROUND: iPrevent is an online breast cancer (BC) risk management decision support tool. It uses an internal switching algorithm, based on a woman's risk factor data, to estimate her absolute BC risk using either the International Breast Cancer Intervention Study (IBIS) version 7.02, or Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm version 3 models, and then provides tailored risk management information. This study assessed the accuracy of the 10-year risk estimates using prospective data. METHODS: iPrevent-assigned 10-year invasive BC risk was calculated for 15 732 women aged 20-70 years and without BC at recruitment to the Prospective Family Study Cohort. Calibration, the ratio of the expected (E) number of BCs to the observed (O) number and discriminatory accuracy were assessed. RESULTS: During the 10 years of follow-up, 619 women (3.9%) developed BC compared with 702 expected (E/O = 1.13; 95% confidence interval [CI] =1.05 to 1.23). For women younger than 50 years, 50 years and older, and BRCA1/2-mutation carriers and noncarriers, E/O was 1.04 (95% CI = 0.93 to 1.16), 1.24 (95% CI = 1.11 to 1.39), 1.13 (95% CI = 0.96 to 1.34), and 1.13 (95% CI = 1.04 to 1.24), respectively. The C-statistic was 0.70 (95% CI = 0.68 to 0.73) overall and 0.74 (95% CI = 0.71 to 0.77), 0.63 (95% CI = 0.59 to 0.66), 0.59 (95% CI = 0.53 to 0.64), and 0.65 (95% CI = 0.63 to 0.68), respectively, for the subgroups above. Applying the newer IBIS version 8.0b in the iPrevent switching algorithm improved calibration overall (E/O = 1.06, 95% CI = 0.98 to 1.15) and in all subgroups, without changing discriminatory accuracy. CONCLUSIONS: For 10-year BC risk, iPrevent had good discriminatory accuracy overall and was well calibrated for women aged younger than 50 years. Calibration may be improved in the future by incorporating IBIS version 8.0b.

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