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J. Balmaña · SciRah

Researcher profile · Semantic Scholar

J. Balmaña

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J. Balmaña — researcher profile on SciRah

h-index: 61
Works: 343
Citations: 17K

Most-cited papers

Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer
A. Tutt, J. Garber, B. Kaufman, G. Viale +35 more
2021New England Journal of Medicine1,390 citations Open access
Semantic Scholar
Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer
C. Geyer, J. Garber, R. Gelber, G. Yothers +72 more
2022Annals of Oncology431 citations Open access
Semantic Scholar
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
C. Sessa, J. Balmaña, S. Bober, M. Cardoso +14 more
2022Annals of Oncology262 citations Open access
Semantic Scholar
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology
D. Tamborero, R. Dienstmann, M. Rachid, J. Boekel +28 more
2022Nature Cancer117 citations Open access
Semantic Scholar
Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline
N. Tung, C. Ricker, H. Messersmith, J. Balmaña +17 more
2024Journal of Clinical Oncology90 citations
Semantic Scholar
Preclinical in vivo validation of the RAD51 test for identification of homologous recombination-deficient tumors and patient stratification
Benedetta Pellegrino, A. Herencia-Ropero, A. Llop-Guevara, F. Pedretti +35 more
2022Cancer Research85 citations Open access
Semantic Scholar
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
M. Tischkowitz, J. Balmaña, W. Foulkes, P. James +6 more
2021Genetics in Medicine80 citations Open access
Semantic Scholar
Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor resistant advanced breast cancer.
E. Harvey-Jones, M. Raghunandan, L. Robbez-Masson, L. Magraner-Pardo +35 more
2024Annals of Oncology72 citations Open access
Semantic Scholar
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models
A. Herencia-Ropero, A. Llop-Guevara, Anna D. Staniszewska, Joanna Domènech-Vivó +24 more
2024Genome Medicine72 citations Open access
Semantic Scholar
ACMG PRACTICE RESOURCE: Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
H. Hanson, Esteban Astiazaran-Symonds, L. Amendola, J. Balmaña +10 more
2023Genetics in Medicine68 citations Open access
Semantic Scholar
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
E. Dareng, J. Tyrer, D. Barnes, Michelle R. Jones +263 more
2022European Journal of Human Genetics57 citations Open access
Semantic Scholar
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.
D. Marmolejo, Mark Yu Zheng Wong, S. Bajalica-Lagercrantz, M. Tischkowitz +1 more
2021European Journal of Medical Genetics57 citations
Semantic Scholar
Abstract CT007: PETRA: First in class, first in human trial of the next generation PARP1-selective inhibitor AZD5305 in patients (pts) with BRCA1/2, PALB2 or RAD51C/D mutations
T. Yap, S. Im, A. Schram, A. Sharp +12 more
2022Cancer Research55 citations Open access
Semantic Scholar
Identification of a Molecularly-Defined Subset of Breast and Ovarian Cancer Models that Respond to WEE1 or ATR Inhibition, Overcoming PARP Inhibitor Resistance
V. Serra, Anderson T. Wang, M. Castroviejo-Bermejo, U. Polanska +36 more
2022Clinical Cancer Research44 citations Open access
Semantic Scholar
Early-Stage Breast Cancer Detection in Breast Milk
C. Saura, C. Ortiz, J. Matito, E. Arenas +24 more
2023Cancer Discovery43 citations Open access
Semantic Scholar
Germline TP53 pathogenic variants and breast cancer: A narrative review.
E. Blondeaux, L. Arecco, K. Punie, R. Graffeo +11 more
2023Cancer Treatment Reviews41 citations Open access
Semantic Scholar
Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model
N. Mavaddat, L. Ficorella, T. Carver, Andrew Lee +21 more
2022medRxiv39 citations Open access
Semantic Scholar
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Inge M. M. Lakeman, A. J. van den Broek, J. A. Vos, D. Barnes +210 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
D. Barnes, Valentina Silvestri, Goska Leslie, L. McGuffog +160 more
2021Journal of the National Cancer Institute36 citations Open access
Semantic Scholar
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
J. Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, A. Dias +65 more
2022The Lancet Oncology35 citations Open access
Semantic Scholar
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants
M. Lambertini, M. Ceppi, A. Hamy, O. Caron +35 more
2021npj Breast Cancer34 citations Open access
Semantic Scholar
161O VIOLETTE: Randomised phase II study of olaparib (ola) + ceralasertib (cer) or adavosertib (ada) vs ola alone in patients (pts) with metastatic triple-negative breast cancer (mTNBC)
A. Tutt, Z. Nowecki, R. Szoszkiewicz, S. Im +14 more
2022Annals of Oncology26 citations Open access
Semantic Scholar
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes
Alejandro Moles-Fernández, Joanna Domènech-Vivó, Anna Tenés, J. Balmaña +2 more
2021Cancers25 citations Open access
Semantic Scholar
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients
M. Ramírez, R. Pujol, J. P. Trujillo-Quintero, J. Minguillón +18 more
2021American journal of hematology/oncology23 citations Open access
Semantic Scholar
Harnessing STING Signaling and Natural Killer Cells overcomes PARP Inhibitor Resistance in Homologous Recombination Deficient Breast Cancer.
F. Pedretti, Mohmed Abdalfttah, Benedetta Pellegrino, Francesca Mateo +29 more
2025Cancer Research21 citations
Semantic Scholar
Clinical effectiveness and safety of olaparib in BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: final analysis of LUCY
J. Balmaña, P. Fasching, F. Couch, S. Delaloge +21 more
2023Breast Cancer Research and Treatment20 citations Open access
Semantic Scholar
Paired somatic-germline testing of 15 polyposis and colorectal cancer-predisposing genes highlights the role of APC mosaicism in de novo familial adenomatous polyposis.
Paula Rofes, S. González, M. Navarro, J. M. Moreno-Cabrera +22 more
2021Journal of Molecular Diagnostics20 citations Open access
Semantic Scholar
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
C. Hakkaart, J. Pearson, L. Marquart, J. Dennis +157 more
2022Communications Biology18 citations Open access
Semantic Scholar
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Tuya Pal, K. Schon, Esteban Astiazaran-Symonds, J. Balmaña +11 more
2024Genetics in Medicine17 citations
Semantic Scholar
BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort
Paula Rofes, J. del Valle, S. Torres-Esquius, L. Feliubadaló +15 more
2021Genes17 citations Open access
Semantic Scholar
Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma
R. Errazquin, E. Carrasco, S. Del Marro, A. Suñol +10 more
2023medRxiv15 citations Open access
Semantic Scholar
Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors
R. Schmutzler, Björn Schmitz-Luhn, B. Borisch, P. Devilee +21 more
2021Breast Care13 citations Open access
Semantic Scholar
SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)
A. Sánchez-Heras, T. R. Y. Cajal, M. Pineda, E. Aguirre +4 more
2023Clinical and Translational Oncology11 citations Open access
Semantic Scholar
Efficacy and safety of rucaparib treatment in patients with BRCA-mutated, relapsed ovarian cancer: final results from Study 10
R. Kristeleit, Y. Drew, A. Oza, S. Domchek +12 more
2022British Journal of Cancer11 citations Open access
Semantic Scholar
Clinical consequences of BRCA2 hypomorphism
Laia Castells-Roca, S. Gutiérrez-Enríquez, S. Bonache, M. Bogliolo +14 more
2021npj Breast Cancer10 citations Open access
Semantic Scholar
RAD51 testing in patients with early HER2-negative breast cancer and homologous recombination deficiency: post-hoc analysis of the GeparOla trial.
G. Villacampa, A. Llop-Guevara, N. Filmann, Andrea Herencia +18 more
2024Clinical Cancer Research9 citations
Semantic Scholar
Impact of concurrent tumour events on the prostate cancer outcomes of germline BRCA2 mutation carriers.
R. Lozano, E. Castro, F. López-Campos, H. Thorne +28 more
2023European Journal of Cancer9 citations
Semantic Scholar
Current Systemic Treatments for the Hereditary Cancer Syndromes: Drug Development in Light of Genomic Defects.
E. Hasanov, I. Pimentel, M. Cruellas, Mark A. Lewis +2 more
2022American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting8 citations Open access
Semantic Scholar
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders
E. Carrasco, A. López-Fernández, M. Codina-Solà, I. Valenzuela +15 more
2022Journal of Medical Genetics8 citations Open access
Semantic Scholar
Post-hematopoietic stem cell transplant squamous cell carcinoma in patients with Fanconi anemia: a dreadful enemy
L. Murillo-Sanjuán, J. Balmaña, A. de Pablo García-Cuenca, J. L. Guerrero +3 more
2021Clinical and Translational Oncology8 citations
Semantic Scholar
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result
A. López-Fernández, G. Villacampa, M. Salinas, Èlia Grau +14 more
2023Journal of Genetic Counseling7 citations
Semantic Scholar
Abstract OT2-24-02: ZEST: Randomized phase III study evaluating efficacy and safety of niraparib in patients with HER2-negative BRCA-mutated or triple-negative breast cancer with detectable circulating tumor DNA after definitive therapy
N. Turner, D. Cescon, S. Loibl, W. Janni +8 more
2022Cancer Research7 citations
Semantic Scholar
Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia.
R. Errazquin, A. Page, A. Suñol, C. Segrelles +14 more
2022Oral Oncology7 citations Open access
Semantic Scholar
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
G. Montalban, S. Bonache, V. Bach, Alexandra Gisbert-Beamud +7 more
2021Cancer Genetics7 citations
Semantic Scholar
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients
Laura Pena-Couso, M. Ercibengoa, F. Mercadillo, D. Gómez-Sánchez +57 more
2021Orphanet Journal of Rare Diseases6 citations Open access
Semantic Scholar
2O Association of RAD51 with homologous recombination deficiency (HRD) and clinical outcomes in untreated triple-negative breast cancer (TNBC): Analysis of the GeparSixto randomized clinical trial
A. Llop-Guevara, V. Vladimirova, A. Schneeweiss, G. Villacampa +16 more
20216 citations Open access
Semantic Scholar
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
S. Koh, S. Ohsumi, Masato Takahashi, E. Fukuma +9 more
2021Breast Cancer6 citations Open access
Semantic Scholar
Combination of olaparib, durvalumab and fulvestrant in patients with advanced ER+/HER2- breast cancer and selected genomic alterations: results of the DOLAF trial.
Séverine Guiu, J. Balmaña, Pablo Lemercier, P. Follana +19 more
2025Clinical Cancer Research5 citations
Semantic Scholar
HOPE (SOLTI-1903) breast cancer study: real-world, patient-centric, clinical practice study to assess the impact of genomic data on next treatment decision-choice in patients with locally advanced or metastatic breast cancer
R. Olivera-Salguero, E. Seguí, J. Cejalvo, M. Oliveira +30 more
2023Frontiers in Oncology5 citations Open access
Semantic Scholar
Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study
Nicholas C. Turner, A. Laird, M. Telli, H. Rugo +14 more
2023npj Breast Cancer5 citations Open access
Semantic Scholar

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