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2. Significantly longer time to deterioration of quality of life due to CANKADO PRO-React eHealth support in HR+ HER2− metastatic breast cancer patients receiving palbociclib and endocrine therapy: primary outcome analysis of the multicenter randomized AGO-B WSG PreCycle trial

Author

Kieback, Dirk Günter, van Mackelenbergh, Marion Tina, Hielscher, Carsten, Ugur, Mustafa Celalettin, Uleer, Christoph, Zahn, Mark-Oliver, Meyer, Ralf, Kraudelt, Susanne, Stefek, Andrea, Pink, Daniel, Just, Marianne, Kolberg, Hans-Christian, Fehm, Tanja, Malter, Wolfram, Warm, Mathias, Forstbauer, Helmut, Behringer, Dirk, Wortmann, Anke, Rom, Joachim, Lehnert, Antje, Ackermann, Sven, Guth, Dagmar, Simon, Eike, Dünnebacke, Jan, Hönig, Arnd, Ehscheidt, Peter, Gnauert, Karsten, Kühn, Thorsten, von Abel, Ekkehard, Hartkopf, Andreas, Karck, Ulrich, Negwer, Martina, Wacker, Jürgen, Welslau, Manfred, Sagasser, Jaqueline, Heinrichm, Bernhard, Brucker, Cosima, Stauder, Heribert, Gröll, Isolde, Felberbaum, Ricardo, Popovic, Milos, Baerens, Dirk-Toralf, Söling, Ulrike, Zaiss, Matthias, Rauh, Jaqueline, Fietz, Thomas, Schröder, Jan, Voß, Hermann, Mohm, Johannes, Neef, Ute, Rieger, Lorenz, Distelrath, Andrea, Nusch, Arnd, Schmidt, Burkhard, Lüdtke-Heckenkamp, Kerstin, Berghorn, Michael, Busch, Steffi, Schock, Caroline, Metz, Michael, Lorenz, Andreas, Uhlig, Jens, Otremba, Burkhard, Harbeck, N., Fasching, P.A., Wuerstlein, R., Degenhardt, T., Lüftner, D., Kates, R.E., Schumacher, J., Räth, P., Hoffmann, O., Lorenz, R., Decker, T., Reinisch, M., Göhler, T., Staib, P., Gluz, O., Schinköthe, T., and Schmidt, M.

Published
2023
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4. A multicentre, randomised, double-blind, phase II study to evaluate the tolerability of an induction dose escalation of everolimus in patients with metastatic breast cancer (DESIREE)

Author

Schmidt, M., Lübbe, K., Decker, T., Thill, M., Bauer, L., Müller, V., Link, T., Furlanetto, J., Reinisch, M., Mundhenke, C., Hoffmann, O., Zahn, M.-O., Müller, L., Denkert, C., van Mackelenbergh, M., Fasching, P.A., Burchardi, N., Nekljudova, V., and Loibl, S.

Published
2022
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6. Ribociclib plus fulvestrant for postmenopausal women with hormone receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer in the phase III randomized MONALEESA-3 trial: updated overall survival

Author

Slamon, D.J., Neven, P., Chia, S., Jerusalem, G., De Laurentiis, M., Im, S., Petrakova, K., Valeria Bianchi, G., Martín, M., Nusch, A., Sonke, G.S., De la Cruz-Merino, L., Beck, J.T., Ji, Y., Wang, C., Deore, U., Chakravartty, A., Zarate, J.P., Taran, T., and Fasching, P.A.

Published
2021
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7. Reconstructing tumor history in breast cancer: signatures of mutational processes and response to neoadjuvant chemotherapy⋆

Author

Denkert, C., Untch, M., Benz, S., Schneeweiss, A., Weber, K.E., Schmatloch, S., Jackisch, C., Sinn, H.P., Golovato, J., Karn, T., Marmé, F., Link, T., Budczies, J., Nekljudova, V., Schmitt, W.D., Stickeler, E., Müller, V., Jank, P., Parulkar, R., Heinmöller, E., Sanborn, J.Z., Schem, C., Sinn, B.V., Soon-Shiong, P., van Mackelenbergh, M., Fasching, P.A., Rabizadeh, S., and Loibl, S.

Published
2021
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8. Neoadjuvant paclitaxel/olaparib in comparison to paclitaxel/carboplatinum in patients with HER2-negative breast cancer and homologous recombination deficiency (GeparOLA study)

Author

Fasching, P.A., Link, T., Hauke, J., Seither, F., Jackisch, C., Klare, P., Schmatloch, S., Hanusch, C., Huober, J., Stefek, A., Seiler, S., Schmitt, W.D., Uleer, C., Doering, G., Rhiem, K., Schneeweiss, A., Engels, K., Denkert, C., Schmutzler, R.K., Hahnen, E., Untch, M., Burchardi, N., Blohmer, J.-U., and Loibl, S.

Published
2021
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9. Prognostic gene expression signature for high-grade serous ovarian cancer

Author

Bowtell, D., Chenevix-Trench, G., Green, A., Webb, P., DeFazio, A., Gertig, D., Traficante, N., Fereday, S., Moore, S., Hung, J., Harrap, K., Sadkowsky, T., Pandeya, N., Malt, M., Mellon, A., Robertson, R., Vanden Bergh, T., Jones, M., Mackenzie, P., Maidens, J., Nattress, K., Chiew, Y.E., Stenlake, A., Sullivan, H., Alexander, B., Ashover, P., Brown, S., Corrish, T., Green, L., Jackman, L., Ferguson, K., Martin, K., Martyn, A., Ranieri, B., White, J., Jayde, V., Mamers, P., Bowes, L., Galletta, L., Giles, D., Hendley, J., Alsop, K., Schmidt, T., Shirley, H., Ball, C., Young, C., Viduka, S., Tran, Hoa, Bilic, Sanela, Glavinas, Lydia, Brooks, Julia, Stuart-Harris, R., Kirsten, F., Rutovitz, J., Clingan, P., Glasgow, A., Proietto, A., Braye, S., Otton, G., Shannon, J., Bonaventura, T., Stewart, J., Begbie, S., Friedlander, M., Bell, D., Baron-Hay, S., Ferrier,a, A., Gard, G., Nevell, D., Pavlakis, N., Valmadre, S., Young, B., Camaris, C., Crouch, R., Edwards, L., Hacker, N., Marsden, D., Robertson, G., Beale, P., Beith, J., Carter, J., Dalrymple, C., Houghton, R., Russell, P., Links, M., Grygiel, J., Hill, J., Brand, A., Byth, K., Jaworski, R., Harnett, P., Sharma, R., Wain, G., Ward, B., Papadimos, D., Crandon, A., Cummings, M., Horwood, K., Obermair, A., Perrin, L., Wyld, D., Nicklin, J., Davy, M., Oehler, M.K., Hall, C., Dodd, T., Healy, T., Pittman, K., Henderson, D., Miller, J., Pierdes, J., Blomfield, P., Challis, D., McIntosh, R., Parker, A., Brown, B., Rome, R., Allen, D., Grant, P., Hyde, S., Laurie, R., Robbie, M., Healy, D., Jobling, T., Manolitsas, T., McNealage, J., Rogers, P., Susil, B., Sumithran, E., Simpson, I., Phillips, K., Rischin, D., Fox, S., Johnson, D., Lade, S., Loughrey, M., O’Callaghan, N., Murray, W., Waring, P., Billson, V., Pyman, J., Neesham, D., Quinn, M., Underhill, C., Bell, R., Ng, L.F., Blum, R., Ganju, V., Hammond, I., Leung, Y., McCartney, A., Buck, M., Haviv, I., Purdie, D., Whiteman, D., Zeps, N., Millstein, J., Budden, T., Goode, E.L., Anglesio, M.S., Talhouk, A., Intermaggio, M.P., Leong, H.S., Chen, S., Elatre, W., Gilks, B., Nazeran, T., Volchek, M., Bentley, R.C., Wang, C., Chiu, D.S., Kommoss, S., Leung, S.C.Y., Senz, J., Lum, A., Chow, V., Sudderuddin, H., Mackenzie, R., George, J., Steed, H., Koziak, J.M., Köbel, M., McNeish, I.A., Goranova, T., Ennis, D., Macintyre, G., Silva De Silva, D., Ramón y Cajal, T., García-Donas, J., Hernando Polo, S., Rodriguez, G.C., Cushing-Haugen, K.L., Harris, H.R., Greene, C.S., Zelaya, R.A., Behrens, S., Fortner, R.T., Sinn, P., Herpel, E., Lester, J., Lubiński, J., Oszurek, O., Tołoczko, A., Cybulski, C., Menkiszak, J., Pearce, C.L., Pike, M.C., Tseng, C., Alsop, J., Rhenius, V., Song, H., Jimenez-Linan, M., Piskorz, A.M., Gentry-Maharaj, A., Karpinskyj, C., Widschwendter, M., Singh, N., Kennedy, C.J., Harnett, P.R., Gao, B., Johnatty, S.E., Sayer, R., Boros, J., Winham, S.J., Keeney, G.L., Kaufmann, S.H., Larson, M.C., Luk, H., Hernandez, B.Y., Thompson, P.J., Wilkens, L.R., Carney, M.E., Trabert, B., Lissowska, J., Brinton, L., Sherman, M.E., Bodelon, C., Hinsley, S., Lewsley, L.A., Glasspool, R., Banerjee, S.N., Stronach, E.A., Haluska, P., Ray-Coquard, I., Mahner, S., Winterhoff, B., Slamon, D., Levine, D.A., Kelemen, L.E., Benitez, J., Chang-Claude, J., Gronwald, J., Wu, A.H., Menon, U., Goodman, M.T., Schildkraut, J.M., Wentzensen, N., Brown, R., Berchuck, A., deFazio, A., Gayther, S.A., García, M.J., Henderson, M.J., Rossing, M.A., Beeghly-Fadiel, A., Fasching, P.A., Orsulic, S., Karlan, B.Y., Konecny, G.E., Huntsman, D.G., Bowtell, D.D., Brenton, J.D., Doherty, J.A., Pharoah, P.D.P., and Ramus, S.J.

Published
2020
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10. Tumor mutational burden and immune infiltration as independent predictors of response to neoadjuvant immune checkpoint inhibition in early TNBC in GeparNuevo

Author

Karn, T., Denkert, C., Weber, K.E., Holtrich, U., Hanusch, C., Sinn, B.V., Higgs, B.W., Jank, P., Sinn, H.P., Huober, J., Becker, C., Blohmer, J.-U., Marmé, F., Schmitt, W.D., Wu, S., van Mackelenbergh, M., Müller, V., Schem, C., Stickeler, E., Fasching, P.A., Jackisch, C., Untch, M., Schneeweiss, A., and Loibl, S.

Published
2020
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11. Complementary and alternative medicine and musculoskeletal pain in the first year of adjuvant aromatase inhibitor treatment in early breast cancer patients

Author

Hack, C.C., Häberle, L., Brucker, S.Y., Janni, W., Volz, B., Loehberg, C.R., Hartkopf, A.D., Walter, C.-B., Baake, G., Fridman, A., Malter, W., Wuerstlein, R., Harbeck, N., Hoffmann, O., Kuemmel, S., Martin, B., Thomssen, C., Graf, H., Wolf, C., Lux, M.P., Bayer, C.M., Rauh, C., Almstedt, K., Gass, P., Heindl, F., Brodkorb, T., Willer, L., Lindner, C., Kolberg, H.-C., Krabisch, P., Weigel, M., Steinfeld-Birg, D., Kohls, A., Brucker, C., Schulz, V., Fischer, G., Pelzer, V., Rack, B., Beckmann, M.W., Fehm, T., Rody, A., Maass, N., Hein, A., Fasching, P.A., and Nabieva, N.

Published
2020
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12. FANCM missense variants and breast cancer risk

Author

Figlioli, G., Billaud, A., Ahearn, T.U., Antonenkova, N.N., Becher, H., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Blok, M.J., Bogdanova, N.V., Bonanni, B., Burwinkel, B., Camp, N.J., Campbell, A., Castelao, J.E., Cessna, M.H., Chanock, S.J., Czene, K., Devilee, P., Dork, T., Engel, C., Eriksson, M., Fasching, P.A., Figueroa, J.D., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Gonzalez-Neira, A., Grassmann, F., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harrington, P.A., He, W., Hillemanns, P., Hollestelle, A., Hooning, M.J., Hoppe, R., Howell, A., Humphreys, K., Jager, A., Jakubowska, A., Khusnutdinova, E.K., Ko, Y.D., Kristensen, V.N., Lindblom, A., Peterlongo, Paolo, MUMC+: DA KG Lab Specialisten (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), and Medical Oncology

Subjects
Manchester Cancer Research Centre, SDG 3 - Good Health and Well-being, ResearchInstitutes_Networks_Beacons/mcrc, Framework, Genetics, Pathogenicity, C.5791c-greater-than-t, Gene, Genetics (clinical)
Abstract

Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07–2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08–1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.

Published
2023

13. A randomised phase II study investigating durvalumab in addition to an anthracycline taxane-based neoadjuvant therapy in early triple-negative breast cancer: clinical results and biomarker analysis of GeparNuevo study

Author

Loibl, S., Untch, M., Burchardi, N., Huober, J., Sinn, B.V., Blohmer, J.-U., Grischke, E.-M., Furlanetto, J., Tesch, H., Hanusch, C., Engels, K., Rezai, M., Jackisch, C., Schmitt, W.D., von Minckwitz, G., Thomalla, J., Kümmel, S., Rautenberg, B., Fasching, P.A., Weber, K., Rhiem, K., Denkert, C., and Schneeweiss, A.

Published
2019
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14. Survival analysis of carboplatin added to an anthracycline/taxane-based neoadjuvant chemotherapy and HRD score as predictor of response—final results from GeparSixto

Author

Loibl, S., Weber, K.E., Timms, K.M., Elkin, E.P., Hahnen, E., Fasching, P.A., Lederer, B., Denkert, C., Schneeweiss, A., Braun, S., Salat, C.T., Rezai, M., Blohmer, J.U., Zahm, D.M., Jackisch, C., Gerber, B., Klare, P., Kümmel, S., Schem, C., Paepke, S., Schmutzler, R., Rhiem, K., Penn, S., Reid, J., Nekljudova, V., Hartman, A.-R., von Minckwitz, G., and Untch, M.

Published
2018
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16. VP3-2023: Health-related quality of life (HRQoL) in the phase III NATALEE study of adjuvant ribociclib (RIB) plus a nonsteroidal aromatase inhibitor (NSAI) vs NSAI alone in patients (pts) with HR+/HER2- early breast cancer (EBC)

Author

Fasching, P.A., primary, Slamon, D., additional, Nowecki, Z., additional, Kukielka-Budny, B.D., additional, Stroyakovskiy, D., additional, Yardley, D., additional, Huang, C., additional, Chan, A., additional, Chia, S., additional, Martin, M., additional, Rugo, H.S., additional, Loi, S., additional, Hurvitz, S.A., additional, Untch, M., additional, Afenjar, K., additional, Fresco, R., additional, Danyliv, A., additional, Ferrusi, I., additional, Li, Z., additional, and Hortobagyi, G.N., additional

Published
2023
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17. Influence of side-effects on early therapy persistence with letrozole in post-menopausal patients with early breast cancer: Results of the prospective EvAluate-TM study

Author

Nabieva, N., Fehm, T., Häberle, L., de Waal, J., Rezai, M., Baier, B., Baake, G., Kolberg, H.-C., Guggenberger, M., Warm, M., Harbeck, N., Wuerstlein, R., Deuker, J.-U., Dall, P., Richter, B., Wachsmann, G., Brucker, C., Siebers, J.W., Popovic, M., Kuhn, T., Wolf, C., Vollert, H.-W., Breitbach, G.-P., Janni, W., Landthaler, R., Kohls, A., Rezek, D., Noesselt, T., Fischer, G., Henschen, S., Praetz, T., Heyl, V., Kühn, T., Krauss, T., Thomssen, C., Hohn, A., Tesch, H., Mundhenke, C., Hein, A., Hack, C.C., Schmidt, K., Belleville, E., Brucker, S.Y., Kümmel, S., Beckmann, M.W., Wallwiener, D., Hadji, P., and Fasching, P.A.

Published
2018
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18. Influence of patient and tumor characteristics on early therapy persistence with letrozole in postmenopausal women with early breast cancer: results of the prospective Evaluate-TM study with 3941 patients

Author

Nabieva, N., Kellner, S., Fehm, T., Häberle, L., de Waal, J., Rezai, M., Baier, B., Baake, G., Kolberg, H.-C., Guggenberger, M., Warm, M., Harbeck, N., Wuerstlein, R., Deuker, J.-U., Dall, P., Richter, B., Wachsmann, G., Brucker, C., Siebers, J.W., Fersis, N., Kuhn, T., Wolf, C., Vollert, H.-W., Breitbach, G.-P., Janni, W., Landthaler, R., Kohls, A., Rezek, D., Noesselt, T., Fischer, G., Henschen, S., Praetz, T., Heyl, V., Kühn, T., Krauss, T., Thomssen, C., Hohn, A., Tesch, H., Mundhenke, C., Hein, A., Rauh, C., Bayer, C.M., Jacob, A., Schmidt, K., Belleville, E., Brucker, S.Y., Kümmel, S., Beckmann, M.W., Wallwiener, D., Hadji, P., and Fasching, P.A.

Published
2018
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19. Anti-Müllerian hormone (AMH) levels in premenopausal breast cancer patients treated with taxane-based adjuvant chemotherapy – A translational research project of the SUCCESS A study

Author

Trapp, Elisabeth, Steidl, J., Rack, B., Kupka, M.S., Andergassen, U., Jückstock, J., Kurt, A., Vilsmaier, T., de Gregorio, A., de Gregorio, N., Tzschaschel, M., Lato, C., Polasik, A., Tesch, H., Schneeweiss, A., Beckmann, M.W., Fasching, P.A., Janni, W., and Müller, V.

Published
2017
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20. 99P Exploratory analysis of differential gene expression (DGE) and non-negative matrix factorisation (NMF) clustering in KATHERINE: Adjuvant trastuzumab emtansine (T-DM1) vs trastuzumab (H) in patients with HER2-positive residual invasive breast cancer after neoadjuvant treatment (NAT)

Author

Denkert, C., primary, Nowicka, M., additional, Basik, M., additional, Lewis, G., additional, Fasching, P.A., additional, Lucas, P., additional, Eiger, D., additional, Geyer, C.E., additional, Loibl, S., additional, de Haas, S., additional, and Lambertini, C., additional

Published
2023
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21. 222P Real-world clinical outcomes among patients (pts) with metastatic/advanced triple-negative breast cancer (mTNBC) in the United Kingdom (UK) and Germany (GER)

Author

Hall, P.S., primary, Chang, L., additional, Parikh, R., additional, Hitchens, A., additional, Davis, K., additional, Sjekloca, N., additional, Summerhayes, M., additional, Ntalla, I., additional, Ansquer, V. Derrien, additional, Bergamaco, E., additional, Gharaibeh, M., additional, and Fasching, P.A., additional

Published
2023
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22. Significantly longer time to deterioration of quality of life due to CANKADO PRO-React eHealth support in HR+ HER2- metastatic breast cancer patients receiving palbociclib and endocrine therapy: Primary outcome analysis of the multicenter randomized AGO-B WSG PreCycle trial

Author

Harbeck, N., primary, Fasching, P.A., additional, Würstlein, R., additional, Degenhardt, T., additional, Lüftner, D., additional, Kates, R.E., additional, Schumacher, J., additional, Räth, P., additional, Hoffmann, O., additional, Lorenz, R., additional, Decker, T., additional, Reinisch, M., additional, Göhler, T., additional, Staib, P., additional, Gluz, O., additional, Schinköthe, T., additional, and Schmidt, M., additional

Published
2023
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23. 195P Impact of an interactive eHealth system for patient reported outcomes on safety in patients with hormone receptor positive, HER2 negative locally advanced or metastatic breast cancer treated by palbociclib and endocrine therapy

Author

Harbeck, N., primary, Kates, R.E., additional, Schinköthe, T., additional, Schumacher, J., additional, Degenhardt, T., additional, Würstlein, R., additional, Lüftner, D.I., additional, Hoffmann, O., additional, Raeth, P., additional, Lorenz, R., additional, Decker, T., additional, Reinisch, M., additional, Göhler, T., additional, Staib, P., additional, Gluz, O., additional, Fasching, P.A., additional, and Schmidt, M., additional

Published
2023
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25. 203P Clinical effectiveness of olaparib in BRCA-mutated, HER2-negative metastatic breast cancer (mBC) by ER expression level: Subgroup analysis from phase IIIb LUCY trial

Author

Gelmon, K.A., primary, Fasching, P.A., additional, Delaloge, S., additional, Park, Y.H., additional, Eisen, A.F., additional, Bourgeois, H., additional, Kemp, Z., additional, Jankowski, T., additional, Sohn, J., additional, Aksoy, S., additional, Timcheva, C.V., additional, Park-Simon, T-W., additional, Torres, A. Anton, additional, John, E., additional, Gibson, I., additional, Lukashchuk, N., additional, Baria, K., additional, and Balmaña, J., additional

Published
2023
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26. 129P Impact of TROP-2 and its cellular localization on prognosis of breast cancer in the GAIN cohort

Author

Westhoff, C., primary, Müller, S.K., additional, Schmatloch, S., additional, Henke, R-P., additional, Jank, P., additional, Hattesohl, A., additional, Janni, W., additional, Fasching, P.A., additional, Marmé, F., additional, Karn, T., additional, Schmidt, M., additional, Mueller, V., additional, Untch, M., additional, Schem, C., additional, Stickeler, E., additional, Van Mackelenbergh, M.V.M., additional, Forstbauer, H., additional, Nekljudova, V., additional, Loibl, S., additional, and Denkert, C., additional

Published
2023
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27. 154TiP TACTIVE-N: Open-label, randomized, noncomparative neoadjuvant phase 2 study of ARV-471, a PROteolysis TArgeting Chimera (PROTAC) estrogen receptor (ER) degrader, or anastrozole in postmenopausal women with ER+/human epidermal growth factor receptor 2 (HER2)- localized breast cancer

Author

Fasching, P.A., primary, Clifton, K., additional, Katashvili, Z., additional, Nemsadze, G., additional, Makharadze, T., additional, Arkania, E., additional, Gogishvili, M., additional, Lachowicz, M., additional, Gedrich, R., additional, Ranciato, J., additional, Zhi, E., additional, Perkins, J., additional, Jañez, N. Martinez, additional, and Hurvitz, S.A., additional

Published
2023
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28. 32O 5-year (y) overall survival (OS) with maintenance olaparib (ola) plus bevacizumab (bev) by clinical risk in patients (pts) with newly diagnosed advanced ovarian cancer (AOC) in the phase III PAOLA-1/ENGOT-ov25 trial

Author

Lorusso, D., primary, Mouret-Reynier, M-A., additional, Harter, P., additional, Cropet, C., additional, Caballero Diaz, C., additional, Petru, E., additional, Satoh, T., additional, Vergote, I.B., additional, Parma, G., additional, Jakobi Nøttrup, T., additional, Lebreton, C., additional, Fasching, P.A., additional, Pisano, C., additional, Manso, L., additional, Bourgeois, H., additional, Runnebaum, I., additional, Hardy-Bessard, A-C., additional, Schnelzer, A., additional, Pujade-Lauraine, E., additional, and Ray-Coquard, I.L., additional

Published
2023
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29. Zoledronate for patients with invasive residual disease after anthracyclines-taxane-based chemotherapy for early breast cancer – The Phase III NeoAdjuvant Trial Add-oN (NaTaN) study (GBG 36/ABCSG 29)

Author

von Minckwitz, G., Rezai, M., Tesch, H., Huober, J., Gerber, B., Zahm, D.M., Hilfrich, J., Costa, S.D., Dubsky, P., Blohmer, J.U., Denkert, C., Hanusch, C., Jackisch, C., Kümmel, S., Fasching, P.A., Schneeweiss, A., Paepke, S., Untch, M., Burchardi, N., Mehta, K., and Loibl, S.

Published
2016
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30. Lifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis

Author

Fu, Z., Brooks, M.M., Irvin, S., Jordan, S., Aben, K.K.H., Anton-Culver, H., Bandera, E.V., Beckmann, M.W., Berchuck, A., Brooks-Wilson, A., Chang-Claude, J., Cook, L.S., Cramer, D.W, Cushing-Haugen, K.L., Doherty, J.A., Ekici, A.B., Fasching, P.A., Fortner, R.T., Gayther, S.A., Gentry-Maharaj, A., Giles, G.G., Goode, E.L., Goodman, M.T., Harris, H.R., Hein, A., Kaaks, R., Kiemeney, L.A., Köbel, M., Kotsopoulos, J., Le, N.D., Lee, A.W.C., Matsuo, K., McGuire, V., McLaughlin, J.R., Menon, U., Milne, R.L., Moysich, K.B., Pearce, C.L., Pike, M.C., Qin, B., Ramus, S.J., Riggan, M.J., Rothstein, J.H., Schildkraut, J.M., Sieh, W., Sutphen, R., Terry, K.L., Thompson, P.J., Titus, L., Altena, A.M. van, White, E., Whittemore, A.S., Wu, A.H., Zheng, W., Ziogas, Argyrios, Taylor, S.E., Tang, L., Songer, T., Wentzensen, N., Webb, P.M., Risch, H.A., and Modugno, F.

Subjects
Cancer Research, All institutes and research themes of the Radboud University Medical Center, Oncology, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Women's cancers Radboud Institute for Health Sciences [Radboudumc 17]
Abstract

Background The role of ovulation in epithelial ovarian cancer (EOC) is supported by the consistent protective effects of parity and oral contraceptive use. Whether these factors protect through anovulation alone remains unclear. We explored the association between lifetime ovulatory years (LOY) and EOC. Methods LOY was calculated using 12 algorithms. Odds ratios (ORs) and 95% confidence intervals (CIs) estimated the association between LOY or LOY components and EOC among 26 204 control participants and 21 267 case patients from 25 studies. To assess whether LOY components act through ovulation suppression alone, we compared beta coefficients obtained from regression models with expected estimates assuming 1 year of ovulation suppression has the same effect regardless of source. Results LOY was associated with increased EOC risk (OR per year increase = 1.014, 95% CI = 1.009 to 1.020 to OR per year increase = 1.044, 95% CI = 1.041 to 1.048). Individual LOY components, except age at menarche, also associated with EOC. The estimated model coefficient for oral contraceptive use and pregnancies were 4.45 times and 12- to 15-fold greater than expected, respectively. LOY was associated with high-grade serous, low-grade serous, endometrioid, and clear cell histotypes (ORs per year increase = 1.054, 1.040, 1.065, and 1.098, respectively) but not mucinous tumors. Estimated coefficients of LOY components were close to expected estimates for high-grade serous but larger than expected for low-grade serous, endometrioid, and clear cell histotypes. Conclusions LOY is positively associated with nonmucinous EOC. Differences between estimated and expected model coefficients for LOY components suggest factors beyond ovulation underlie the associations between LOY components and EOC in general and for non-HGSOC.

Published
2023

32. Neoadjuvant durvalumab improves survival in early triple-negative breast cancer independent of pathological complete response

Author

Loibl, S., primary, Schneeweiss, A., additional, Huober, J., additional, Braun, M., additional, Rey, J., additional, Blohmer, J.-U., additional, Furlanetto, J., additional, Zahm, D.-M., additional, Hanusch, C., additional, Thomalla, J., additional, Jackisch, C., additional, Staib, P., additional, Link, T., additional, Rhiem, K., additional, Solbach, C., additional, Fasching, P.A., additional, Nekljudova, V., additional, Denkert, C., additional, and Untch, M., additional

Published
2022
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33. PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in similar to 200,000 patients (vol 24, 69, 2022)

Author

Giardiello, D., Hooning, M.J., Hauptmann, M., Keeman, R., Heemskerk-Gerritsen, B.A.M., Becher, H., Blomqvist, C., Bojesen, S.E., Bolla, M.K., Camp, N.J., Czene, K., Devilee, P., Eccles, D.M., Fasching, P.A., Figueroa, J.D., Flyger, H., Garcia-Closas, M., Haiman, C.A., Hamann, U., Hopper, J.L., Jakubowska, A., Leeuwen, F.E., Lindblom, A., Lubinski, J., Margolin, S., Martinez, M.E., Nevanlinna, H., Nevelsteen, I., Pelders, S., Pharoah, P.D.P., Siesling, S., Southey, M.C., Hout, A.H. van der, Hest, L.P. van, Chang-Claude, J., Hall, P., Easton, D.F., Steyerberg, E.W., and Schmidt, M.K.

Published
2022

34. PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients

Author

Giardiello, D., Hooning, M.J., Hauptmann, M., Keeman, R., Heemskerk-Gerritsen, B.A.M., Becher, H., Blomqvist, C., Bojesen, S.E., Bolla, M.K., Camp, N.J., Czene, K., Devilee, P., Eccles, D.M., Fasching, P.A., Figueroa, J.D., Flyger, H., Garcia-Closas, M., Haiman, C.A., Hamann, U., Hopper, J.L., Jakubowska, A., Leeuwen, F.E., Lindblom, A., Lubinski, J., Margolin, S., Martinez, M.E., Nevanlinna, H., Nevelsteen, I., Pelders, S., Pharoah, P.D.P., Siesling, S., Southey, M.C., Hout, A.H. van der, Hest, L.P. van, Chang-Claude, J., Hall, P., Easton, D.F., Steyerberg, E.W., Schmidt, M.K., Medical Oncology, Public Health, Human genetics, CCA - Cancer Treatment and quality of life, Apollo - University of Cambridge Repository, Faculteit Medische Wetenschappen/UMCG, Medicum, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, University of Helsinki, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, and García-Closas, Montserrat [0000-0003-1033-2650]

Subjects
Clinical Decision-making, 3122 Cancers, Oncology and Carcinogenesis, Breast Neoplasms, BRCA1/2 germline mutation, Polygenic risk score, SDG 3 - Good Health and Well-being, Breast Cancer Genetic Predisposition, Risk Factors, Breast Cancer, Genetics, Humans, ddc:610, Oncology & Carcinogenesis, Contralateral Preventive Mastectomy, BCAC, Breast cancer genetic predisposition, Mastectomy, Germ-Line Mutation, Cancer, Polygenic Risk Score, Prevention, Research, Brca1/2 Germline Mutation, Risk prediction, Contralateral preventive mastectomy, Prophylactic Mastectomy, Prediction Performance, Contralateral breast cancer, Breast Cancer Association Consortium, Prediction performance, Contralateral Breast Cancer, Female, Risk Prediction, Bcac, Clinical decision-making
Abstract

Background Prediction of contralateral breast cancer (CBC) risk is challenging due to moderate performances of the known risk factors. We aimed to improve our previous risk prediction model (PredictCBC) by updated follow-up and including additional risk factors. Methods We included data from 207,510 invasive breast cancer patients participating in 23 studies. In total, 8225 CBC events occurred over a median follow-up of 10.2 years. In addition to the previously included risk factors, PredictCBC-2.0 included CHEK2 c.1100delC, a 313 variant polygenic risk score (PRS-313), body mass index (BMI), and parity. Fine and Gray regression was used to fit the model. Calibration and a time-dependent area under the curve (AUC) at 5 and 10 years were assessed to determine the performance of the models. Decision curve analysis was performed to evaluate the net benefit of PredictCBC-2.0 and previous PredictCBC models. Results The discrimination of PredictCBC-2.0 at 10 years was higher than PredictCBC with an AUC of 0.65 (95% prediction intervals (PI) 0.56–0.74) versus 0.63 (95%PI 0.54–0.71). PredictCBC-2.0 was well calibrated with an observed/expected ratio at 10 years of 0.92 (95%PI 0.34–2.54). Decision curve analysis for contralateral preventive mastectomy (CPM) showed the potential clinical utility of PredictCBC-2.0 between thresholds of 4 and 12% 10-year CBC risk for BRCA1/2 mutation carriers and non-carriers. Conclusions Additional genetic information beyond BRCA1/2 germline mutations improved CBC risk prediction and might help tailor clinical decision-making toward CPM or alternative preventive strategies. Identifying patients who benefit from CPM, especially in the general breast cancer population, remains challenging.

Published
2022
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35. Survival after neoadjuvant chemotherapy with or without bevacizumab or everolimus for HER2-negative primary breast cancer (GBG 44–GeparQuinto)

Author

von Minckwitz, G., Loibl, S., Untch, M., Eidtmann, H., Rezai, M., Fasching, P.A., Tesch, H., Eggemann, H., Schrader, I., Kittel, K., Hanusch, C., Huober, J., Solbach, C., Jackisch, C., Kunz, G., Blohmer, J.U., Hauschild, M., Fehm, T., Nekljudova, V., Gerber, B., Gnauert, K., Heinrich, B., Prätz, T., Groh, U., Tanzer, H., Villena, C., Tulusan, A., Liedtke, B., Blohmer, J.-U., Mau, C., Potenberg, J., Schilling, J., Just, M., Weiss, E., Bückner, U., Wolfgarten, M., Lorenz, R., Doering, G., Feidicker, S., Krabisch, P., Deichert, U., Augustin, D., Kast, K., Nestle-Krämling, C., Höß, C., Terhaag, J., Fasching, P., Staib, P., Aktas, B., Kühn, T., Khandan, F., Möbus, V., Stickeler, E., Heinrich, G., Wagner, H., Abdallah, A., Dewitz, T., Emons, G., Belau, A., Rethwisch, V., Lantzsch, T., Thomssen, C., Mattner, U., Nugent, A., Müller, V., Noesselt, T., Holms, F., Müller, T., Deuker, J.-U., Strumberg, D., Uleer, C., Solomayer, E., Runnebaum, I., Link, H., Tomé, O., Ulmer, H.-U., Conrad, B., Feisel-Schwickardi, G., Schumacher, C., Steinmetz, T., Bauerfeind, I., Kremers, S., Langanke, D., Kullmer, U., Ober, A., Fischer, D., Kohls, A., Weikel, W., Bischoff, J., Freese, K., Schmidt, M., Wiest, W., Sütterlin, M., Dietrich, M., Grießhammer, M., Burgmann, D.-M., Rack, B., Salat, C., Sattler, D., Tio, J., von Abel, E., Christensen, B., Burkamp, U., Köhne, C.-H., Meinerz, W., Graßhoff, S.-T., Decker, T., Overkamp, F., Thalmann, I., Sallmann, A., Beck, T., Reimer, T., Bartzke, G., Deryal, M., Weigel, M., Weder, P., Steffens, C.-C., Lemster, S., Stefek, A., Ruhland, F., Hofmann, M., Schuster, J., Simon, W., Kronawitter, U., Clemens, M., Janni, W., Latos, K., Bauer, W., Roßmann, A., Bauer, L., Lampe, D., Heyl, V., Hoffmann, G., Lorenz-Salehi, F., Hackmann, J., and Schlag, R.

Published
2014
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37. 68MO Generalization of a deep learning model for HER2 status predictions on H&E-stained whole slide images derived from 3 neoadjuvant clinical studies

Author

Hägele, M., primary, Müller, K-R., additional, Denkert, C., additional, Schneeweiss, A., additional, Sinn, B.V., additional, Untch, M., additional, Van Mackelenbergh, M.T., additional, Jackisch, C., additional, Nekljudova, V., additional, Karn, T., additional, Alber, M., additional, Marmé, F., additional, Schem, C., additional, Stickeler, E., additional, Fasching, P.A., additional, Mueller, V., additional, Weber, K.E., additional, Lederer, B., additional, Loibl, S., additional, and Klauschen, F., additional

Published
2022
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38. 269P Long-term survival of HER2-positive breast cancer patients with brain metastases: Subanalysis of the BMBC registry

Author

Laakmann, E., primary, Riecke, K., additional, Neunhöffer, T., additional, Park-Simon, T-W., additional, Weide, R., additional, Polasik, A., additional, Schmidt, M., additional, Puppe, J., additional, Fasching, P.A., additional, Hesse, T., additional, Decker, T., additional, Denkert, C., additional, Fehm, T.N., additional, Nekljudova, V., additional, Rey, J., additional, Loibl, S., additional, Mueller, V., additional, and Witzel, I., additional

Published
2022
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39. 135MO HRQoL with neoadjuvant pembrolizumab + chemotherapy vs placebo + chemotherapy, followed by adjuvant pembrolizumab vs placebo for early-stage TNBC: Results from KEYNOTE-522

Author

Dent, R.A., primary, Cortés, J., additional, Pusztai, L., additional, McArthur, H.L., additional, Kuemmel, S., additional, Bergh, J., additional, Denkert, C., additional, Park, Y.H., additional, Hui, R., additional, Harbeck, N., additional, Takahashi, M., additional, Untch, M., additional, Fasching, P.A., additional, Cardoso, F., additional, Haiderali, A., additional, Jia, L., additional, Nguyen, A.M., additional, Pan, W., additional, O'Shaughnessy, J., additional, and Schmid, P., additional

Published
2022
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40. 144P Neoadjuvant giredestrant (GDC-9545) + palbociclib (P) vs anastrozole (A) + P in postmenopausal women with oestrogen receptor-positive, HER2-negative, untreated early breast cancer (ER+/HER2– eBC): Biomarker subgroup analysis of the randomised, phase II coopERA BC study

Author

Bardia, A., primary, Fernando, T.M., additional, Fasching, P.A., additional, Quiroga Garcia, V., additional, Park, Y.H., additional, Giltnane, J.M., additional, Xue, C., additional, Lopez Valverde, V., additional, Steinseifer-Szabo, J., additional, Pérez-Moreno, P.D., additional, Moore, H.M., additional, and Hurvitz, S.A., additional

Published
2022
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41. 200TiP A randomized, open-label, phase II trial comparing neoadjuvant trastuzumab, pertuzumab and endocrine therapy +/- the PI3K inhibitor inavolisib in patients (pts) with HER2+/HR+, PIK3CA mutant early breast cancer (BC)- GeparPiPPa

Author

Loibl, S., primary, Reinisch, M., additional, Denkert, C., additional, Fasching, P.A., additional, Seiler, S., additional, Link, T., additional, Hanusch, C., additional, Bjelic-Radisic, V., additional, Schneeweiss, A., additional, Huober, J., additional, Jackisch, C., additional, Rhiem, K.E., additional, Untch, M., additional, Solbach, C., additional, Blohmer, J-U., additional, Buechele, T., additional, Nekljudova, V., additional, and Loi, S., additional

Published
2022
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43. Corrigendum to “A randomised phase II study investigating durvalumab in addition to an anthracycline taxane-based neoadjuvant therapy in early triple-negative breast cancer: clinical results and biomarker analysis of GeparNuevo study”

Author

Loibl, S., primary, Untch, M., additional, Burchardi, N., additional, Huober, J., additional, Sinn, B.V., additional, Blohmer, J.-U., additional, Grischke, E.-M., additional, Furlanetto, J., additional, Tesch, H., additional, Hanusch, C., additional, Engels, K., additional, Rezai, M., additional, Jackisch, C., additional, Schmitt, W.D., additional, von Minckwitz, G., additional, Thomalla, J., additional, Kümmel, S., additional, Rautenberg, B., additional, Fasching, P.A., additional, Weber, K., additional, Rhiem, K., additional, Denkert, C., additional, and Schneeweiss, A., additional

Published
2022
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45. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Author

Dorling, L., Carvalho, S., Allen, J., Parsons, M.T., Fortuno, C., Gonzalez-Neira, A., Heijl, S.M., Adank, M.A., Ahearn, T.U., Andrulis, I.L., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bremer, M., Briceno, I., Camp, N.J., Campbell, A., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Collee, J.M., Czene, K., Dennis, J., Dork, T., Eriksson, M., Evans, D.G., Fasching, P.A., Figueroa, J., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Giles, G.G., Glendon, G., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartman, M., Hogervorst, F.B.L., Hollestelle, A., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kristensen, V.N., Lakeman, I.M.M., Li, J.M., Lindblom, A., Loizidou, M.A., Lophatananon, A., Lubinski, J., Luccarini, C., Madsen, M.J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R.L., Taib, N.A.M., Muir, K., Nevanlinna, H., Newman, W.G., Oosterwijk, J.C., Park, S.K., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Shah, M.T., Sim, X., Southey, M.C., Surowy, H., Suvanto, M., Tomlinson, I., Torres, D., Truong, T., Asperen, C.J. van, Waltes, R., Wang, Q., Yang, X.H.R., Pharoah, P.D.P., Schmidt, M.K., Benitez, J., Vroling, B., Dunning, A.M., Teo, S.H., Kvist, A., Hoya, M. de la, Devilee, P., Spurdle, A.B., Vreeswijk, M.P.G., Easton, D.F., NBCS Collaborators, KConFab Investigators, SGBCC Investigators, Clinical Genetics, Medical Oncology, Apollo - University of Cambridge Repository, Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), University of Helsinki, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Wellcome Trust, WT: 633784, v203477/Z/16/Z, Horizon 2020 Framework Programme, H2020, Cancer Research UK, CRUK: C1287/A16563, The sequencing and analysis for this project was funded by the European Union’s Horizon 2020 Research and Innovation Programme (BRIDGES: grant number 634935) and the Wellcome Trust [grant no: v203477/Z/16/Z]. BCAC co-ordination was additionally funded by the European Union’s Horizon 2020 Research and Innovation Programme (BRIDGES: grant number 634935, BCAST: grant number 633784) and by Cancer Research UK [C1287/A16563]. Study specific funding is given in the Additional Note., and HAL UVSQ, Équipe

Subjects
Mutation, Missense, Breast Neoplasms, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Breast Neoplasms/genetics, Breast Cancer, Genetic Epidemiology, Missense Variants, Risk Prediction, CLASSIFICATION, Breast cancer, Missense variants, SDG 3 - Good Health and Well-being, 3123 Gynaecology and paediatrics, SEQUENCE VARIANTS, Genetics, Humans, Genetic Predisposition to Disease, Genetic epidemiology, ddc:610, skin and connective tissue diseases, Molecular Biology, Genetics (clinical), MUTATIONS, Research, UNKNOWN CLINICAL-SIGNIFICANCE, 1184 Genetics, developmental biology, physiology, FRAMEWORK, BRCA1, Risk prediction, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, SUBSTITUTIONS, Case-Control Studies, Mutation, Molecular Medicine, Female, Missense, PATHOGENICITY
Abstract

Background Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and validation (20%) sets to analyze rare missense variants in ATM (1146 training variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), and PALB2 (472). We evaluated breast cancer risks according to five in silico prediction-of-deleteriousness algorithms, functional protein domain, and frequency, using logistic regression models and also mixture models in which a subset of variants was assumed to be risk-associated. Results The most predictive in silico algorithms were Helix (BRCA1, BRCA2 and CHEK2) and CADD (ATM). Increased risks appeared restricted to functional protein domains for ATM (FAT and PIK domains) and BRCA1 (RING and BRCT domains). For ATM, BRCA1, and BRCA2, data were compatible with small subsets (approximately 7%, 2%, and 0.6%, respectively) of rare missense variants giving similar risk to those of protein truncating variants in the same gene. For CHEK2, data were more consistent with a large fraction (approximately 60%) of rare missense variants giving a lower risk (OR 1.75, 95% CI (1.47–2.08)) than CHEK2 protein truncating variants. There was little evidence for an association with risk for missense variants in PALB2. The best fitting models were well calibrated in the validation set. Conclusions These results will inform risk prediction models and the selection of candidate variants for functional assays and could contribute to the clinical reporting of gene panel testing for breast cancer susceptibility.

Published
2022

46. Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

Author

Dorling, L., Carvalho, S., Allen, J., Gonzalez-Neira, A., Luccarini, C., Wahlstrom, C., Pooley, K.A., Parsons, M.T., Fortuno, C., Wang, Q., Bolla, M.K., Dennis, J., Keeman, R., Alonso, M.R., Alvarez, N., Herraez, B., Fernandez, V., Nunez-Torres, R., Osorio, A., Valcich, J., Li, M., Torngren, T., Harrington, P.A., Baynes, C., Conroy, D.M., Decker, B., Fachal, L., Mavaddat, N., Ahearn, T., Aittomaki, K., Antonenkova, N.N., Arnold, N., Arveux, P., Ausems, M.G.E.M., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bialkowska, K., Blomqvist, C., Bogdanova, N.V., Bogdanova-Markov, N., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.L., Brauch, H., Bremer, M., Briceno, I., Bruning, T., Burwinkel, B., Cameron, D.A., Camp, N.J., Campbell, A., Carracedo, A., Castelao, J.E., Cessna, M.H., Chanock, S.J., Christiansen, H., Collee, J.M., Cordina-Duverger, E., Cornelissen, S., Czene, K., Dork, T., Ekici, A.B., Engel, C., Eriksson, M., Fasching, P.A., Figueroa, J., Flyger, H., Forsti, A., Gabrielson, M., Gago-Dominguez, M., Georgoulias, V., Gil, F., Giles, G.G., Glendon, G., Garcia, E.B.G., Alnaes, G.I.G., Guenel, P., Hadjisavvas, A., Haeberle, L., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartikainen, J.M., Hartman, M., He, W., Heemskerk-Gerritsen, B.A.M., Hillemanns, P., Hogervorst, F.B.L., Hollestelle, A., Ho, W.K., Hooning, M.J., Howell, A., Humphreys, K., Idris, F., Jakubowska, A., Jung, A., Kapoor, P.M., Kerin, M.J., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kosma, V.M., Kristensen, V.N., Kyriacou, K., Lakeman, I.M.M., Lee, J.W., Lee, M.H., Li, J.M., Lindblom, A., W.Y. lo, Loizidou, M.A., Lophatananon, A., Lubinski, J., MacInnis, R.J., Madsen, M.J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Maurer, T., Mavroudis, D., McLean, C., Meindl, A., Mensenkamp, A.R., Michailidou, K., Miller, N., Taib, N.A.M., Muir, K., Mulligan, A.M., Nevanlinna, H., Newman, W.G., Nordestgaard, B.G., Ng, P.S., Oosterwijk, J.C., Park, S.K., Park-Simon, T.W., Perez, J.I.A., Peterlongo, P., Porteous, D.J., Prajzendanc, K., Prokofyeva, D., Radice, P., Rashid, M.U., Rhenius, V., Rookus, M.A., Rudiger, T., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Schneeweiss, A., Schurmann, P., Shah, M., Sohn, C., Southey, M.C., Surowy, H., Suvanto, M., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tzardi, M., Valova, Y., Asperen, C.J. van, Dam, R.M. van, Ouweland, A.M.W. van den, Kolk, L.E. van der, Veen, E.M. van, Wendt, C., Williams, J.A., Yang, X.H.R., Yoon, S.Y., Zamora, M.P., Evans, D.G., Hoya, M. de la, Simard, J., Antoniou, A.C., Borg, A., Andrulis, I.L., Chang-Claude, J., Garcia-Closas, M., Chenevix-Trench, G., Milne, R.L., Pharoah, P.D.P., Schmidt, M.K., Spurdle, A.B., Vreeswijk, M.P.G., Benitez, J., Dunning, A.M., Kvist, A., Teo, S.H., Devilee, P., Easton, D.F., Breast Canc Assoc Consortium, Erasmus MC other, Medical Oncology, Clinical Genetics, Keeman, Renske [0000-0002-5452-9933], Decker, Brennan [0000-0003-4516-7421], Eriksson, Mikael [0000-0001-8135-4270], Martinez, Maria Elena [0000-0002-6728-1834], Surowy, Harald [0000-0002-3595-9188], Pharoah, Paul DP [0000-0001-8494-732X], Apollo - University of Cambridge Repository, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), and Klinische Genetica

Subjects
Adult, Risk, Oncology, medicine.medical_specialty, Adolescent, PALB2, Genetic counseling, Genes, BRCA2, Mutation, Missense, Genes, BRCA1, Estrogen receptor, Breast Neoplasms, 030204 cardiovascular system & hematology, OVARIAN-CANCER, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Odds Ratio, medicine, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, skin and connective tissue diseases, CHEK2, Aged, Genetic testing, Genetic association, Aged, 80 and over, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], medicine.diagnostic_test, MUTATIONS, business.industry, Age Factors, Genetic Variation, Sequence Analysis, DNA, General Medicine, Odds ratio, Middle Aged, BRCA1, medicine.disease, 3. Good health, Logistic Models, Female, business
Abstract

BACKGROUNDGenetic testing for breast cancer susceptibility is widely used, but for many genes,evidence of an association with breast cancer is weak, underlying risk estimatesare imprecise, and reliable subtype-specific risk estimates are lacking.METHODSWe used a panel of 34 putative susceptibility genes to perform sequencing onsamples from 60,466 women with breast cancer and 53,461 controls. In separateanalyses for protein-truncating variants and rare missense variants in these genes,we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluatedmissense-variant associations according to domain and classification of pathogenicity.RESULTSProtein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2)were associated with a risk of breast cancer overall with a P value of less than0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D,and TP53) were associated with a risk of breast cancer overall with a P value ofless than 0.05 and a Bayesian false-discovery probability of less than 0.05. Forprotein-truncating variants in 19 of the remaining 25 genes, the upper limit ofthe 95% confidence interval of the odds ratio for breast cancer overall was lessthan 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios werehigher for estrogen receptor (ER)–positive disease than for ER-negative disease;for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, andRAD51D, odds ratios were higher for ER-negative disease than for ER-positivedisease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 wereassociated with a risk of breast cancer overall with a P value of less than 0.001.For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a riskof breast cancer overall, with the risk being similar to that of protein-truncatingvariants.CONCLUSIONSThe results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimatesof the risks associated with protein-truncating variants, to guide genetic counseling. (Funded by European Union Horizon 2020 programs and others.)

Published
2021

47. Predicting mammographic density with a linear ultrasound transducer

Author

Behrens, A., additional, Fasching, P.A., additional, Schwenke, E., additional, Gaß, P., additional, Häberle, L., additional, Heindl, F., additional, Heusinger, K., additional, Lotz, L., additional, Lubrich, H., additional, Preuß, C., additional, Schneider, M.O., additional, Schulz-Wendtland, R., additional, Stumpfe, F.M., additional, Uder, M., additional, Wunderle, M., additional, Zahn, A.L., additional, Hack, C.C., additional, Beckmann, M.W., additional, and Emons, J., additional

Published
2022
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48. 58O Safety interim analysis (SIA) of the phase III postneoadjuvant SASCIA study evaluating sacituzumab govitecan (SG) in patients with primary HER2-negative breast cancer (BC) at high relapse risk after neoadjuvant treatment

Author

Marmé, F., primary, Hanusch, C., additional, Furlanetto, J., additional, Morris, P., additional, Link, T., additional, Denkert, C., additional, Fasching, P.A., additional, Jackisch, C., additional, Antolín, S., additional, Solbach, C., additional, Aftimos, P., additional, Huober, J., additional, Untch, M., additional, Balic, M., additional, Reinisch, M., additional, Blohmer, J-U., additional, Gonçalves, A., additional, Rey, J., additional, Büchele, T., additional, and Loibl, S., additional

Published
2022
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49. 178P Assessment of side effects (SEs) impacting quality of life (QoL) in patients (pts) undergoing treatment (tx) for advanced breast cancer (ABC) in clinical practice: A real-world (RW) multi-country survey

Author

Cardoso, F., primary, Rihani, J., additional, Aubel, D., additional, de Courcy, J., additional, Harmer, V., additional, Harbeck, N., additional, Casas, A., additional, Rugo, H.S., additional, Fasching, P.A., additional, Haftchenary, S., additional, Pathak, P., additional, and Schumacher-Wulf, E., additional

Published
2022
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50. 174P Clinical effectiveness and safety of olaparib in BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: Phase IIIb LUCY final analysis

Author

Balmana, J., primary, Fasching, P.A., additional, Delaloge, S., additional, Park, Y.H., additional, Eisen, A., additional, Bourgeois, H., additional, Kemp, Z., additional, Jankowski, T., additional, Sohn, J., additional, Aksoy, S., additional, Timcheva, C.V., additional, Park-Simon, T-W., additional, Anton Torres, A., additional, John, E., additional, Baria, K., additional, Walker, G., additional, and Gelmon, K.A., additional

Published
2022
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