Suchergebnisse - Balmaña, Judith

PARP inhibitors in ovarian cancer von Cibula, David, Balmaña, Judith

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Prediction models in Lynch syndrome von Kastrinos, Fay, Balmaña, Judith, Syngal, Sapna

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Controversies in oncology: are genomic tests quantifying homologous recombination repair deficiency (HRD) useful for treatment decision making? von Pellegrino, Benedetta, Mateo, Joaquin, Serra, Violeta, Balmaña, Judith

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Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status von Prat, Aleix, Cruz, Cristina, Hoadley, Katherine A., Díez, Orland, Perou, Charles M., Balmaña, Judith

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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes von Moles-Fernández, Alejandro, Domènech-Vivó, Joanna, Tenés, Anna, Balmaña, Judith, Diez, Orland, Gutiérrez-Enríquez, Sara

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Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer von DIEZ, ORLAND, PELEGRÍ, AMADEU, GADEA, NEUS, GUTIÉRREZ-ENRÍQUEZ, SARA, MASAS, MIRIAM, TENÉS, ANNA, BOSCH, NINA, BALMAÑA, JUDITH, GRAÑA, BEGOÑA

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Validation and extension of the PREMM(1,2) model in a population-based cohort of colorectal cancer patients von Balaguer, Francesc, Balmaña, Judith, Castellví-Bel, Sergi, Steyerberg, Ewout W., Andreu, Montserrat, Llor, Xavier, Jover, Rodrigo, Syngal, Sapna, Castells, Antoni

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Development and Validation of a Colon Cancer Risk Assessment Tool for Patients Undergoing Colonoscopy von Kastrinos, Fay, Allen, John I., Stockwell, David H., Stoffel, Elena M., Cook, Earl F., Mutinga, Muthoka L., Balmaña, Judith, Syngal, Sapna

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Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing von Balmaña, Judith, Digiovanni, Laura, Gaddam, Pragna, Walsh, Michael F., Joseph, Vijai, Stadler, Zsofia K., Nathanson, Katherine L., Garber, Judy E., Couch, Fergus J., Offit, Kenneth, Robson, Mark E., Domchek, Susan M.

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Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting fir... von Koh, Su-Jin, Ohsumi, Shozo, Takahashi, Masato, Fukuma, Eisuke, Jung, Kyung Hae, Ishida, Takanori, Dai, Ming-Shen, Chang, Chuan-Hsun, Dalvi, Tapashi, Walker, Graham, Bennett, James, O’Shaughnessy, Joyce, Balmaña, Judith

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Correction to: Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast canc... von Koh, Su-Jin, Ohsumi, Shozo, Takahashi, Masato, Fukuma, Eisuke, Jung, Kyung Hae, Ishida, Takanori, Dai, Ming-Shen, Chang, Chuan-Hsun, Dalvi, Tapashi, Walker, Graham, Bennett, James, O’Shaughnessy, Joyce, Balmaña, Judith

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Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer von Kastrinos, Fay, Steyerberg, Ewout W, Balmaña, Judith, Mercado, Rowena, Gallinger, Steven, Haile, Robert, Casey, Graham, Hopper, John L, LeMarchand, Loic, Lindor, Noralane M, Newcomb, Polly A, Thibodeau, Stephen N, Syngal, Sapna

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Breast Cancer Phenotype in Women with TP53 Germline Mutations: a Li Fraumeni Syndrome Consortium Effort von Masciari, Serena, Dillon, Deborah A., Rath, Michelle, Robson, Mark, Weitzel, Jeffrey N., Balmana, Judith, Gruber, Stephen B., Ford, James M., Euhus, David, Lebensohn, Alexandra, Telli, Melinda, Pochebit, Stephen M., Lypas, Georgios, Garber, Judy E

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BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance von Wang, Yifan, Bernhardy, Andrea J., Nacson, Joseph, Krais, John J., Tan, Yin-Fei, Nicolas, Emmanuelle, Radke, Marc R., Handorf, Elizabeth, Llop-Guevara, Alba, Balmaña, Judith, Swisher, Elizabeth M., Serra, Violeta, Peri, Suraj, Johnson, Neil

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The PREMM(1,2,6) Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History von Kastrinos, Fay, Steyerberg, Ewout W., Mercado, Rowena, Balmaña, Judith, Holter, Spring, Gallinger, Steven, Siegmund, Kimberly D., Church, James M., Jenkins, Mark A., Lindor, Noralane M., Thibodeau, Stephen N., Burbidge, Lynn Anne, Wenstrup, Richard J., Syngal, Sapna

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Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic von López-Fernández, Adrià, Villacampa, Guillermo, Grau, Elia, Salinas, Mónica, Darder, Esther, Carrasco, Estela, Torres-Esquius, Sara, Iglesias, Silvia, Solanes, Ares, Gadea, Neus, Velasco, Angela, Urgell, Gisela, Torres, Maite, Tuset, Noemí, Brunet, Joan, Corbella, Sergi, Balmaña, Judith

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Local Therapy in BRCA1 and BRCA2 Mutation Carriers with Operable Breast Cancer: Comparison of Breast Conservation and Mastectomy von Pierce, Lori J., Phillips, Kelly-Anne, Griffith, Kent A., Buys, Saundra, Gaffney, David K., Moran, Meena S., Haffty, Bruce G., Ben-David, Merav, Kaufman, Bella, Garber, Judy E., Merajver, Sofia D., Balmaña, Judith, Meirovitz, Amichay, Domchek, Susan M.

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Olaparib Monotherapy in Patients With Advanced Cancer and a Germline BRCA1/2 Mutation von Kaufman, Bella, Shapira-Frommer, Ronnie, Schmutzler, Rita K., Audeh, M. William, Friedlander, Michael, Balmaña, Judith, Mitchell, Gillian, Fried, Georgeta, Stemmer, Salomon M., Hubert, Ayala, Rosengarten, Ora, Steiner, Mariana, Loman, Niklas, Bowen, Karin, Fielding, Anitra, Domchek, Susan M.

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Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy von Domchek, Susan M, Aghajanian, Carol, Shapira-Frommer, Ronnie, Schmutzler, Rita K, Audeh, M William, Friedlander, Michael, Balmaña, Judith, Mitchell, Gillian, Fried, Georgeta, Stemmer, Salomon M, Hubert, Ayala, Rosengarten, Ora, Loman, Niklas, Robertson, Jane D, Mann, Helen, Kaufman, Bella

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Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases von Mercado, Rowena C., Hampel, Heather, Kastrinos, Fay, Steyerberg, Ewout, Balmana, Judith, Stoffel, Elena, Cohn, David E., Backes, Floor J., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Casey, Graham, Haile, Robert, Madhavan, Subha, de Chapelle, Albert, Syngal, Sapna

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