Citations 13
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Colombo, Mara , López‐Perolio, Irene, Caleca, Laura , Li, Hongyan , Vecchi, Giovanna De, Tudini, Emma , Foglia, Claudia , Mondini, P, Manoukian, Siranoush , Behar, Raquel, Gómez, E. , Meindl, Alfons, Montagna, Marco , Niederacher, Dieter , Schmidt, Ane Yde , Varesco, Liliana , Wappenschmidt, Barbara , Bolla, Manjeet K. , Michailidou, Kyriaki , Wang, Qin , Aittomäki, Kristiina, Andrulis, Irene L. , Beckmann, Matthias W. , Beeghly-Fadel, Alicia, Benı́tez, Javier , Bojesen, Stig E. , Bonanni, Bernardo, Brauch, Hiltrud , Brenner, Hermann , Burwinkel, Barbara , Chang‐Claude, Jenny , Conroy, Don, Eriksson, Mikael , Fasching, Peter A. , Figueroa, Jonine D. , Fletcher, Olivia , Flyger, Henrik, Gabrielson, Marike , García‐Closas, Montserrat , González‐Neira, Anna , Guénel, Pascal , Haiman, Christopher A., Hamann, Ute , Hartman, Mikael , Hauke, Jan , Hopper, John L. , Jakubowska, Anna , Kosma, Veli‐Matti , Lambrechts, Diether , Marchand, Loid Le, Lindblom, Annika , Lubiński, Jan , Mannermaa, Arto, Margolin, Sara , Miao, Hui, Peterlongo, Paolo , Peto, Julian , Pylkäs, Katri , Sawyer, Elinor J. , Schmutzler, Rita K., Schneeweiß, Andreas , Schoemaker, Minouk J. , See, Mee‐Hoong , Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Tomlinson, Ian , Truong, Thérèse , Ouweland, Ans M.W. van den, Kolk, Lizet E. van der, Winqvist, Robert , Zheng, Wei , Investigators, kConFab/AOCS, Easton, Douglas F. , Henderson, Alex, Hogervorst, Frans B.L., Izatt, Louise, Offitt, Kenneth, Side, Lucy, Rensburg, Elizabeth J. van , EMBRACE, Study, HEBON, Study, McGuffog, Lesley, Antoniou, Antonis C. , Chenevix‐Trench, Georgia , Goldgar, David E., Hoya, Miguel de la , Radice, Paolo , Bowtell, David D.L. , Lambrechts, Diether , Lambrechts, Diether , Peterlongo, Paolo , Teo, Soo H , van Rensburg, Elizabeth J , Swerdlow, Anthony J , de la Hoya, Miguel , Radice, Paolo , Southey, Melissa C , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , Hartman, Mikael , García-Closas, Montserrat , Michailidou, Kyriaki , Benitez, Javier , Montagna, Marco , Chenevix-Trench, Georgia , Zheng, Wei , Eriksson, Mikael , Figueroa, Jonine D , Gabrielson, Marike , Bowtell, David D , Meeks, Huong , Parsons, Michael T. , Meindl, Alfons, Dennis, Joe , Anton‐Culver, Hoda , Arndt, Volker , Boeckx, Bram , Bogdanova, Natalia , Bonanni, Bernardo , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Czene, Kamila , Devilee, Peter , Dörk, Thilo , Giles, Graham G. , Hall, Per N , Hollestelle, Antoinette , Jung, Audrey , Mannermaa, Arto , Miao, Hui, Milne, Roger L. , Neuhausen, Susan L. , Nevanlinna, Heli , Olson, Janet E. , Schmidt, Marjanka K. , Toland, Amanda Ewart , Asperen, Christi J. van , Yannoukakos, Drakoulis , Investigators, kConFab/AOCS, Dunning, Alison M. , Spurdle, Amanda B. , Goldgar, David E., Pylkäs, Katri , Gómez-García, Encarna B , Hauke, Jan , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Schoemaker, Minouk J , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J
Human Mutation | February 21, 2018 | Volume: 39 | Issue: 5 | Pages: 729-741
Dose-Response Association of CD8 + Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer
Goode, Ellen L. , Block, Matthew S. , Kalli, Kimberly R., Vierkant, Robert A. , Fogarty, Zachary C. , Tołoczko, Aleksandra, Hein, Alexander , Bouligny, Aliecia L., Jensen, Allan , Osório, Ana , Ryan, Andy , Magliocco, Anthony M., Hartmann, Arndt , Gao, Bo , McCauley, Bryan M. , Kennedy, Catherine J. , Karpinskyj, Chloe , Sousa, Christiani Bisinoto de, Tiezzi, Daniel Guimarães , Wachter, David L., Herpel, Esther , Taran, Florin‐Andrei , Nelson, Gregg , Menkiszak, Janusz , Alsop, Jennifer , Lester, Jenny , García-Donás, Jesús , Nation, Jill, Hung, Jillian A., Palacios, José , Rothstein, Joseph H. , Kelley, Joseph L., Andrade, Jurandyr Moreira de , Robles-Díaz, Luis, Intermaggio, Maria P., Widschwendter, Martin , Beckmann, Matthias W. , Ruebner, Matthias , Jimenez‐Liñan, Mercedes , Singh, Naveena , Oszurek, Oleg, Harnett, Paul R. , Rambau, Peter , Sinn, Hans‐Peter , Wagner, Philipp , Sharma, Raghwa , Ness, Roberta B., Oršulić, Sandra , Johnatty, Sharon E., Longacre, Teri A. , Eilber, Ursula, McGuire, Valerie , Sieh, Weiva , Natanzon, Yanina , Li, Zheng , Whittemore, Alice S. , DeFazio, Anna , Staebler, Annette , Bowtell, David D.L. , Høgdall, Estrid , Reis, Francisco José Cândido dos , Steed, Helen , Campbell, Ian , Benı́tez, Javier , Koziak, Jennifer M. , Chang‐Claude, Jenny, Moysich, Kirsten B. , Kelemen, Linda E. , Goodman, Marc T. , García, María J. , Fasching, Peter A. , Kommoss, Stefan , Deen, Suha , Menon, Usha , Chenevix‐Trench, Georgia , Huntsman, David G. , Köbel, Martin , Ramus, Susan J. , Winham, Stacey J. , Fazio, Anna de , Ramus, Susan J , Köbel, Martin , Hein, Alexander , Jensen, Allan , Vierkant, Robert A , Menon, Usha , Moysich, Kirsten , Campbell, Ian G , García-Donas, Jesús , Kennedy, Catherine J , Menkiszak, Janusz , Sinn, Peter , Widschwendter, Martin , Fogarty, Zachary C , Sieh, Weiva , Benitez, Javier , Chenevix-Trench, Georgia , Høgdall, Estrid , Bowtell, David D , Chen, Wenqian , Gentry‐Maharaj, Aleksandra , Bouligny, Aliecia, Hartkopf, Andreas D , Chudecka-Glaz, Anita Monika , Jung, Audrey , Hernandez, Brenda Y. , Fridley, Brooke L. , Wang, Chen , Modugno, Francesmary , Lubiński, Jan , Robles-Díaz, Luis, Ghatage, Prafull , Edwards, Todd , Brucker, Sara Yvonne , Karlan, Beth Y. , Gilks, C. Blake , Gronwald, Jacek , Cook, Linda S. , Kjær, Susanne K. , Brenton, James D. , Pharoah, Paul D.P. , Nelson, Gregg S , Harnett, Paul R , Steed, Helen , Goodman, Marc T
JAMA Oncology | October 19, 2017 | Volume: 3 | Issue: 12 | Pages: e173290
No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival
Sucheston‐Campbell, Lara, Cannioto, Rikki , Clay‐Gilmour, Alyssa , Etter, John Lewis , Eng, Kevin H., Liu, Song , Battaglia, Sebastiano , Szender, J. Brian, Minlikeeva, Albina N. , Joseph, Janine M. , Mayor, Paul , Abrams, Scott I. , Wallace, Paul K. , Soh, Kah Teong , Zsíros, Emese , Beckmann, Matthias W. , Bruegl, Amanda , Campbell, Ian , Campbell, Shawn, Chenevix‐Trench, Georgia , Diergaarde, Brenda , Doerk, Thilo, Eccles, Diana , Engelholm, Svend Aage, Fasching, Peter A. , Gayther, Simon A. , Goodman, Marc T. , Harter, Philipp , Hein, Alexander , Heitz, Florian , Hillemmanns, Peter, Høgdall, Claus , Høgdall, Estrid , Huzarski, Tomasz , Jensen, Allan , Johnatty, Sharon E. , Jung, Audrey , Klapdor, Reudiger, Kluz, Tomasz , Konopka, Bożena , Kupryjańczyk, Jolanta , Lambrechts, Diether , Lester, Jenny, Lubiński, Jan , Levine, Douglas A. , Lundvall, Lene, McGuire, Valerie , McNeish, Iain A. , Menon, Usha , Ness, Roberta B., Oršulić, Sandra , Pearce, Celeste Leigh, Ramus, Susan J. , Rothstein, Joseph H. , Rossing, Mary Anne, Rübner, Matthias, Schildkraut, Joellen M. , Schmalfeldt, Barbara , Schwaab, Ira, Sieh, Weiva , Sobiczewski, Piotr , Song, Honglin , Terry, Kathryn L. , Nieuwenhuysen, Els Van , Vanderstichele, Adriaan , Vergote, Ignace , Walsh, Christine , Webb, Penelope M. , Wentzensen, Nicolas , Whittemore, Alice S. , Wu, Anna H. , Odunsi, Kunle , Chang‐Claude, Jenny , Goode, Ellen L. , Moysich, Kirsten B. , Dörk, Thilo , Bowtell, David D.L. , Lambrechts, Diether , Clay, Alyssa I, Hu, Qiang , Segal, Brahm H. , Anton‐Culver, Hoda , Bandera, Elisa V. , Berchuck, Andrew , Bjørge, Line , Cramer, Daniel W. , Dansonka‐Mieszkowska, Agnieszka , Dao, Fanny , Doherty, Jennifer A. , Bois, Andreas du , Gentry‐Maharaj, Aleksandra , Glasspool, Rosalind , Gronwald, Jacek , Karlan, Beth Y. , Kjær, Susanne K. , Modugno, Francesmary , Paul, James , Pejovic, Tanja B. , Pharoah, Paul D.P. , Siddiqui, Nadeem , Ziogas, Argyrios , Dörk, Thilo , Lambrechts, Diether , McNeish, Iain A , Ramus, Susan J , Vanderstichele, Adriaan , Webb, Penelope M , Hein, Alexander , Jensen, Allan , Eccles, Diana , Menon, Usha , Moysich, Kirsten , Campbell, Ian G , Heitz, Florian , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Chenevix-Trench, Georgia , Høgdall, Estrid , Høgdall, Claus K , Huzarski, Tomasz , Jung, Audrey Y , Bowtell, David D , Diergaarde, Brenda , Lubinski, Jan , Kluz, Tomasz , Goodman, Marc T
Cancer Epidemiology, Biomarkers & Prevention | September 28, 2016 | Volume: 26 | Issue: 3 | Pages: 420-424
Abstract Background: The precise mechanism by which the immune system is adversely affected in cancer patients remains poorly understood, but the accumulation of immunosuppressive/protumorigenic myeloid-derived suppressor cells (MDSCs) is thought to be a prominent mechanism contributing to immunologic tolerance of malignant cells in epithelial ovarian cancer (EOC). To this end, we hypothesized genetic variation in MDSC pathway genes would be associated with survival after EOC diagnoses. Methods: We measured the hazard of death due to EOC within 10 years of diagnosis, overall and by invasive subtype, attributable to SNPs in 24 genes relevant in the MDSC pathway in 10,751 women diagnosed with invasive EOC. Versatile Gene-based Association Study and the admixture likelihood method were used to test gene and pathway associations with survival. Results: We did not identify individual SNPs that were significantly associated with survival after correction for multiple testing (P < 3.5 × 10−5), nor did we identify significant associations between the MDSC pathway overall, or the 24 individual genes and EOC survival. Conclusions: In this well-powered analysis, we observed no evidence that inherited variations in MDSC-associated SNPs, individual genes, or the collective genetic pathway contributed to EOC survival outcomes. Impact: Common inherited variation in genes relevant to MDSCs was not associated with survival in women diagnosed with invasive EOC. Cancer Epidemiol Biomarkers Prev; 26(3); 420–4. ©2016 AACR.