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1. Full Text Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation
by Kaufman, Bella and Shapira-Frommer, Ronnie and Schmutzler, Rita K and Audeh, M. William and Friedlander, Michael and Balmaña, Judith and Mitchell, Gillian and Fried, Georgeta and Stemmer, Salomon M and Hubert, Ayala and Rosengarten, Ora and Steiner, Mariana and Loman, Niklas and Bowen, Karin and Fielding, Anitra and Domchek, Susan M
Journal of clinical oncology, ISSN 0732-183X, 01/2015, Volume 33, Issue 3, pp. 244 - 250
Life Sciences & Biomedicine | Oncology | Science & Technology | Piperazines - administration & dosage | Prospective Studies | Humans | Middle Aged | Male | Antineoplastic Agents - therapeutic use | Antineoplastic Agents - administration & dosage | Ovarian Neoplasms - genetics | Pancreatic Neoplasms - drug therapy | Prostatic Neoplasms - genetics | Neoplasms - genetics | Antineoplastic Agents - adverse effects | Germ-Line Mutation | Adult | Female | Ovarian Neoplasms - drug therapy | Prostatic Neoplasms - drug therapy | Phthalazines - administration & dosage | Drug Administration Schedule | Kaplan-Meier Estimate | Pancreatic Neoplasms - genetics | Treatment Outcome | Piperazines - therapeutic use | Breast Neoplasms - drug therapy | Piperazines - adverse effects | Neoplasms - drug therapy | BRCA1 Protein - genetics | Disease-Free Survival | Phthalazines - therapeutic use | Breast Neoplasms - genetics | Aged | Neoplasms - pathology | BRCA2 Protein - genetics | Phthalazines - adverse effects | Index Medicus | ORIGINAL REPORTS
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2. Full Text Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing
by Balmaña, Judith and Digiovanni, Laura and Gaddam, Pragna and Walsh, Michael F and Joseph, Vijai and Stadler, Zsofia K and Nathanson, Katherine L and Garber, Judy E and Couch, Fergus J and Offit, Kenneth and Robson, Mark E and Domchek, Susan M
Journal of clinical oncology, ISSN 0732-183X, 12/2016, Volume 34, Issue 34, pp. 4071 - 4078
Life Sciences & Biomedicine | Oncology | Science & Technology | Genetic Variation | Laboratories - standards | Genetic Predisposition to Disease | Prospective Studies | Neoplasms - genetics | Genetic Testing - standards | Genetics, Medical - standards | Humans | Female | Male | Registries | High-Throughput Nucleotide Sequencing | Index Medicus | Genetic epidemiology | ORIGINAL REPORTS | Rapid Communications
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3. Full Text PARP inhibitors in ovarian cancer
by Cibula, David and Balmana, Judith
British journal of cancer, ISSN 0007-0920, 12/2015, Volume 113, Issue 1, pp. S1 - S2
Female | Poly(ADP-ribose) Polymerase Inhibitors - metabolism | Ovarian Neoplasms - drug therapy | Humans | Poly(ADP-ribose) Polymerase Inhibitors - therapeutic use | Poly(ADP-ribose) Polymerase Inhibitors - administration & dosage | Index Medicus | Foreword
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4. Full Text Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status
by Prat, Aleix and Cruz, Cristina and Hoadley, Katherine A and Díez, Orland and Perou, Charles M and Balmaña, Judith
Breast cancer research and treatment, ISSN 0167-6806, 8/2014, Volume 147, Issue 1, pp. 185 - 191
Intrinsic subtype | Oncology | Breast cancer | BRCA1 | Medicine & Public Health | Basal-like | Life Sciences & Biomedicine | Science & Technology | Prognosis | Carcinoma, Basal Cell - genetics | Oligonucleotide Array Sequence Analysis | Humans | Gene Expression Profiling | Germ-Line Mutation - genetics | Neoplasm Proteins - metabolism | Breast Neoplasms - metabolism | DNA Methylation | Neoplasm Grading | Biomarkers, Tumor - metabolism | Female | Chromosomes, Human | Carcinoma, Basal Cell - classification | Breast Neoplasms - classification | Datasets as Topic | Carcinoma, Basal Cell - pathology | Gene Dosage | Carcinoma, Basal Cell - metabolism | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Chromosome Aberrations | Biomarkers, Tumor - genetics | MicroRNAs - genetics | Neoplasm Staging | Gene mutations | Genomics | DNA | Genetic research | Genetic aspects | Genomes | Tumor proteins | Methylation | Gene expression | Ovarian cancer | Cancer | MicroRNA | Comparative analysis | Index Medicus | Brief Report
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5. Full Text 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 and Aghajanian, Carol and Shapira-Frommer, Ronnie and Schmutzler, Rita K and Audeh, M. William and Friedlander, Michael and Balmaña, Judith and Mitchell, Gillian and Fried, Georgeta and Stemmer, Salomon M and Hubert, Ayala and Rosengarten, Ora and Loman, Niklas and Robertson, Jane D and Mann, Helen and Kaufman, Bella
Gynecologic oncology, ISSN 0090-8258, 2016, Volume 140, Issue 2, pp. 199 - 203
Hematology, Oncology and Palliative Medicine | Obstetrics and Gynecology | Olaparib | Phase II | BRCA1/2 mutation | Ovarian cancer | Oncology | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Prospective Studies | Humans | Middle Aged | Drug Resistance, Neoplasm | Antineoplastic Agents - therapeutic use | Piperazines - therapeutic use | Piperazines - adverse effects | Organoplatinum Compounds - pharmacology | Poly(ADP-ribose) Polymerase Inhibitors - therapeutic use | Ovarian Neoplasms - genetics | Phthalazines - therapeutic use | Genes, BRCA2 | Germ-Line Mutation | Female | Aged | Genes, BRCA1 | Ovarian Neoplasms - drug therapy | Phthalazines - adverse effects | Chemotherapy | Genetic aspects | Cancer | Index Medicus | 2 mutation | BRCA1 | ovarian cancer | olaparib | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
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6. Full Text A phase I–II study of the oral PARP inhibitor rucaparib in patients with germline BRCA1/2-mutated ovarian carcinoma or other solid tumors
by Kristeleit, Rebecca and Shapiro, Geoffrey I and Burris, Howard A and Oza, Amit M and LoRusso, Patricia and Patel, Manish R and Domchek, Susan M and Balmaña, Judith and Drew, Yvette and Chen, Lee-May and Safra, Tamar and Montes, Ana and Giordano, Heidi and Maloney, Lara and Goble, Sandra and Isaacson, Jeff and Xiao, Jim and Borrow, Jen and Rolfe, Lindsey and Shapira-Frommer, Ronnie
Clinical cancer research, ISSN 1078-0432, 08/2017, Volume 23, Issue 15, pp. 4095 - 4106
Life Sciences & Biomedicine | Oncology | Science & Technology | Carcinoma - drug therapy | Humans | Middle Aged | Neoplasm Recurrence, Local | Ovarian Neoplasms - pathology | Poly(ADP-ribose) Polymerase Inhibitors - pharmacokinetics | Poly(ADP-ribose) Polymerase Inhibitors - adverse effects | Indoles - administration & dosage | Drug-Related Side Effects and Adverse Reactions - pathology | Poly(ADP-ribose) Polymerase Inhibitors - administration & dosage | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Indoles - adverse effects | Aged, 80 and over | Germ-Line Mutation | Adult | Carcinoma - genetics | Female | Indoles - pharmacokinetics | Aged | Carcinoma - pathology | Ovarian Neoplasms - drug therapy | BRCA2 Protein - genetics | Drug-Related Side Effects and Adverse Reactions - classification | Alanine | Ovarian carcinoma | BRCA1 protein | Anemia | Toxicity | Transaminase | Poly(ADP-ribose) polymerase | Fatigue | Nausea | Breast cancer | Pharmacology | Patients | Inhibitors | Asthenia | Vomiting | Experimental design | Platinum | Quality | Aspartate transaminase | Alanine transaminase | Solid tumors | Pharmacokinetics | Tumors | Index Medicus
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7. Full Text Controversies in oncology: are genomic tests quantifying homologous recombination repair deficiency (HRD) useful for treatment decision making?
by Pellegrino, Benedetta and Mateo, Joaquin and Serra, Violeta and Balmaña, Judith
ESMO open, ISSN 2059-7029, 05/2019, Volume 4, Issue 2, pp. e000480 - e000480
breast cancer | prostate cancer | PARPi | homologous recombination deficiency | ovarian cancer | Life Sciences & Biomedicine | Oncology | Science & Technology
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8. Full Text The PREMM1,2,6 Model Predicts Risk of MLH1 , MSH2 , and MSH6 Germline Mutations Based on Cancer History
by Kastrinos, Fay and Steyerberg, Ewout W and Mercado, Rowena and Balmaña, Judith and Holter, Spring and Gallinger, Steven and Siegmund, Kimberly D and Church, James M and Jenkins, Mark A and Lindor, Noralane M and Thibodeau, Stephen N and Burbidge, Lynn Anne and Wenstrup, Richard J and Syngal, Sapna
Gastroenterology (New York, N.Y. 1943), ISSN 0016-5085, 2011, Volume 140, Issue 1, pp. 73 - 81.e5
Gastroenterology and Hepatology | Colon Cancer Family Registry | Lynch Syndrome | Prediction Model | Gene-Specific Risk Estimates | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | gene-specific risk estimates | prediction model
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9. Full Text BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance
by Wang, Yifan and Bernhardy, Andrea J and Nacson, Joseph and Krais, John J and Tan, Yin-Fei and Nicolas, Emmanuelle and Radke, Marc R and Handorf, Elizabeth and Llop-Guevara, Alba and Balmana, Judith and Swisher, Elizabeth M and Serra, Violeta and Peri, Suraj and Johnson, Neil
Nature communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 5661 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Translocation, Genetic | Introns | Humans | Drug Resistance, Neoplasm | Antineoplastic Agents - administration & dosage | Breast Neoplasms - drug therapy | Chromosome Inversion | Breast Neoplasms - metabolism | Poly(ADP-ribose) Polymerase Inhibitors - administration & dosage | BRCA1 Protein - genetics | Animals | Breast Neoplasms - genetics | Mice, Nude | BRCA1 Protein - metabolism | Gene Rearrangement | Female | Mice | Alu Elements | Degradation | BRCA1 protein | Alu elements | Proteasomes | Poly(ADP-ribose) polymerase | Breast cancer | Mutation | Index Medicus
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10. Full Text Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: Comparison of breast conservation and mastectomy
by Pierce, Lori J and Phillips, Kelly-Anne and Griffith, Kent A and Buys, Saundra and Gaffney, David K and Moran, Meena S and Haffty, Bruce G and Ben-David, Merav and Kaufman, Bella and Garber, Judy E and Merajver, Sofia D and Balmaña, Judith and Meirovitz, Amichay and Domchek, Susan M
Breast cancer research and treatment, ISSN 0167-6806, 06/2010, Volume 121, Issue 2, pp. 389 - 398
Mastectomy | BRCA1/2 | Hereditary breast cancer | Radiotherapy | Breast conservation | Life Sciences & Biomedicine | Oncology | Science & Technology | Gynecology. Andrology. Obstetrics | Mammary gland diseases | Biological and medical sciences | Medical sciences | Tumors | Breast Neoplasms - surgery | Humans | Middle Aged | Kaplan-Meier Estimate | Antineoplastic Agents - therapeutic use | Incidence | Neoplasms, Second Primary - epidemiology | Breast Neoplasms - genetics | Mastectomy, Segmental | Genes, BRCA2 | Adult | Breast Neoplasms - mortality | Female | Heterozygote | Neoplasm Recurrence, Local - epidemiology | Retrospective Studies | Chemotherapy, Adjuvant | Genes, BRCA1 | Mutation | Neoplasm Staging | Radiotherapy, Adjuvant | Chemotherapy | Gene mutations | Surgery | Development and progression | Breast cancer | Genetic aspects | Comparative analysis | Health aspects | Ovarian cancer | Cancer | Index Medicus | radiotherapy | breast conservation | mastectomy | BRCA1 | hereditary breast cancer
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11. Full Text CDK12 Inhibition Reverses De Novo and Acquired PARP Inhibitor Resistance in BRCA Wild-Type and Mutated Models of Triple-Negative Breast Cancer
by Johnson, Shawn F and Cruz, Cristina and Greifenberg, Ann Katrin and Dust, Sofia and Stover, Daniel G and Chi, David and Primack, Benjamin and Cao, Shiliang and Bernhardy, Andrea J and Coulson, Rhiannon and Lazaro, Jean-Bernard and Kochupurakkal, Bose and Sun, Heather and Unitt, Christine and Moreau, Lisa A and Sarosiek, Kristopher A and Scaltriti, Maurizio and Juric, Dejan and Baselga, José and Richardson, Andrea L and Rodig, Scott J and D’Andrea, Alan D and Balmaña, Judith and Johnson, Neil and Geyer, Matthias and Serra, Violeta and Lim, Elgene and Shapiro, Geoffrey I
Cell reports (Cambridge), ISSN 2211-1247, 11/2016, Volume 17, Issue 9, pp. 2367 - 2381
triple-negative breast cancer | CDK inhibitor | dinaciclib | homologous recombination repair | PARP inhibitor | BRCA-associated breast cancer | CDK12 | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Transcription, Genetic - drug effects | Cyclin-Dependent Kinases - metabolism | Homologous Recombination - drug effects | Humans | BRCA1 Protein - metabolism | Triple Negative Breast Neoplasms - pathology | DNA Damage - genetics | Female | Cyclin-Dependent Kinases - antagonists & inhibitors | Gene Expression Regulation, Neoplastic - drug effects | Triple Negative Breast Neoplasms - enzymology | Amino Acid Sequence | DNA Repair - drug effects | Cyclin-Dependent Kinases - chemistry | Gene Knockout Techniques | Mutation - genetics | Xenograft Model Antitumor Assays | BRCA1 Protein - genetics | Poly(ADP-ribose) Polymerase Inhibitors - pharmacology | Pyridinium Compounds - pharmacology | Bridged Bicyclo Compounds, Heterocyclic - pharmacology | Animals | Triple Negative Breast Neoplasms - genetics | Cell Line, Tumor | Mice | Protein Kinase Inhibitors - pharmacology | Drug Resistance, Neoplasm - drug effects | RNA, Small Interfering - metabolism | Index Medicus
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12. Full Text Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer—an European consensus statement and expert recommendations
by Singer, Christian F and Balmaña, Judith and Bürki, Nicole and Delaloge, Suzette and Filieri, Maria Elisabetta and Gerdes, Anna-Marie and Grindedal, Eli Marie and Han, Sileni and Johansson, Oskar and Kaufman, Bella and Krajc, Mateja and Loman, Niklas and Olah, Edith and Paluch-Shimon, Shani and Plavetic, Natalija Dedic and Pohlodek, Kamil and Rhiem, Kerstin and Teixeira, Manuel and Evans, D. Gareth
European journal of cancer (1990), ISSN 0959-8049, 01/2019, Volume 106, pp. 54 - 60
BRCA | Metastatic breast cancer | Hereditary breast cancer | BRCA1 | Genetic testing | BRCA2 | Genetic counselling | Life Sciences & Biomedicine | Oncology | Science & Technology | Predictive Value of Tests | Genetic Testing | Humans | Molecular Targeted Therapy | Genetic Counseling | Breast Neoplasms - therapy | Female | Precision Medicine | Genetic Predisposition to Disease | Reproducibility of Results |