Search Results - Balmaña, Judith

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  1. 1
    PARP inhibitors in ovarian cancer

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

    Published 2015
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  2. 2
    Prediction models in Lynch syndrome

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

    Published 2013
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  3. 3
    Controversies in oncology: are genomic tests quantifying homologous recombination repair deficiency (HRD) useful for treatment decision making?

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

    Published 2019
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  4. 4
    Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status

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

    Published 2014
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  5. 5
    Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

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

    Published 2021
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  6. 6
    Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer

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

    Published 2011
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  7. 7
    Validation and extension of the PREMM(1,2) model in a population-based cohort of colorectal cancer patients

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

    Published 2007
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  8. 8
    Development and Validation of a Colon Cancer Risk Assessment Tool for Patients Undergoing Colonoscopy

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

    Published 2009
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  9. 9
    Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

    Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing by 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.

    Published 2016
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  10. 10
    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 first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study

    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... by 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

    Published 2021
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  11. 11
    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 cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study

    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... by 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

    Published 2021
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  12. 12
    Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer

    Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer by 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

    Published 2012
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  13. 13
    Breast Cancer Phenotype in Women with TP53 Germline Mutations: a Li Fraumeni Syndrome Consortium Effort

    Breast Cancer Phenotype in Women with TP53 Germline Mutations: a Li Fraumeni Syndrome Consortium Effort by 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

    Published 2012
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  14. 14
    BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance

    BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance by 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

    Published 2019
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  15. 15
    The PREMM(1,2,6) Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History

    The PREMM(1,2,6) Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History by 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

    Published 2010
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  16. 16
    Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic

    Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic by 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

    Published 2021
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  17. 17
    Local Therapy in BRCA1 and BRCA2 Mutation Carriers with Operable Breast Cancer: Comparison of Breast Conservation and Mastectomy

    Local Therapy in BRCA1 and BRCA2 Mutation Carriers with Operable Breast Cancer: Comparison of Breast Conservation and Mastectomy by 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.

    Published 2010
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  18. 18
    Olaparib Monotherapy in Patients With Advanced Cancer and a Germline BRCA1/2 Mutation

    Olaparib Monotherapy in Patients With Advanced Cancer and a Germline BRCA1/2 Mutation by 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.

    Published 2015
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  19. 19
    Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy

    Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy by 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

    Published 2015
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  20. 20
    Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

    Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases by 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

    Published 2012
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