Judith Balmañà
A5083605021- BRCA gene mutations in cancer
- PARP inhibition in cancer therapy
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- CRISPR and Genetic Engineering
- Advanced Breast Cancer Therapies
- Genomic variations and chromosomal abnormalities
- Ovarian cancer diagnosis and treatment
- Colorectal Cancer Screening and Detection
- Radiomics and Machine Learning in Medical Imaging
- Colorectal Cancer Treatments and Studies
- Digestive system and related health
- Infant Nutrition and Health
- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Cancer-related Molecular Pathways
- Lung Cancer Treatments and Mutations
- Global Cancer Incidence and Screening
- RNA modifications and cancer
- Health Systems, Economic Evaluations, Quality of Life
- RNA Research and Splicing
- Cancer Research and Treatments
- Cancer Treatment and Pharmacology
Vall d'Hebron Hospital Universitari
2016-2025
Vall d'Hebron Institute of Oncology
2016-2025
Weatherford College
2025
Hospital de Sant Pau
1998-2023
Universitat Autònoma de Barcelona
2012-2023
Vall d'Hebron Institut de Recerca
2019-2023
Solti
2023
Spanish Ovarian Cancer Research Group
2018-2022
Institut Català d'Oncologia
2010-2022
CIBBIM-Nanomedicine
2022
Purpose Olaparib is an oral poly (ADP-ribose) polymerase inhibitor with activity in germline BRCA1 and BRCA2 (BRCA1/2) –associated breast ovarian cancers. We evaluated the efficacy safety of olaparib a spectrum BRCA1/2-associated Patients Methods This multicenter phase II study enrolled individuals BRCA1/2 mutation recurrent cancer. Eligibility included cancer resistant to prior platinum; ≥ three chemotherapy regimens for metastatic disease; pancreatic gemcitabine treatment; or prostate...
There is a need to improve treatments for metastatic breast cancer. Here, we show the activation of phosphoinositide 3-kinase (PI3K) and mitogen-activated protein kinase (MAPK) pathways in MMTV-CreBrca1(f/f)Trp53(+/-) mouse model When treated with pan-class IA PI3K inhibitor NVP-BKM120, tumor doubling was delayed from 5 26 days. NVP-BKM120 reduced AKT phosphorylation, cell proliferation, angiogenesis. Resistant tumors maintained suppression phosphorylation but exhibited MAPK pathway at...
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...
BackgroundBRCA1 and BRCA2 (BRCA1/2)-deficient tumors display impaired homologous recombination repair (HRR) enhanced sensitivity to DNA damaging agents or poly(ADP-ribose) polymerase (PARP) inhibitors (PARPi). Their efficacy in germline BRCA1/2 (gBRCA1/2)-mutated metastatic breast cancers has been recently confirmed clinical trials. Numerous mechanisms of PARPi resistance have described, whose relevance gBRCA-mutated cancer is unknown. This highlights the need identify functional biomarkers...
PURPOSE To estimate age-specific relative and absolute cancer risks of breast to ovarian, pancreatic, male breast, prostate, colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these have not been extensively characterized. METHODS We analyzed data from 524 families PVs 21 countries. Complex segregation analysis was used (RRs; country-specific population incidences) cancers. The models allowed for residual familial aggregation ovarian were adjusted the...
The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...
Although poly(ADP-ribose) polymerase (PARP) inhibitors are active in homologous recombination (HR)-deficient cancers, their utility is limited by acquired resistance after restoration of HR. Here, we report that dinaciclib, an inhibitor cyclin-dependent kinases (CDKs) 1, 2, 5, and 9, additionally has potent activity against CDK12, a transcriptional regulator In BRCA-mutated triple-negative breast cancer (TNBC) cells patient-derived xenografts (PDXs), dinaciclib ablates restored HR reverses...
Abstract Breast and ovarian cancer patients harboring BRCA1/2 germline mutations have clinically benefitted from therapy with PARP inhibitor (PARPi) or platinum compounds, but acquired resistance limits clinical impact. In this study, we investigated the impact of on BRCA1 isoform expression therapeutic response. Cancer cell lines tumors in exon 11 express a BRCA1-Δ11q splice variant lacking majority 11. The introduction frameshift to resulted nonsense-mediated mRNA decay full-length, not...
Purpose: Rucaparib is a potent, oral, small-molecule PARP inhibitor. This phase I-II study was the first to evaluate single-agent oral rucaparib at multiple doses.Experimental Design: Part 1 (phase I) sought determine MTD, recommended II dose (RP2D), and pharmacokinetics of administered in 21-day continuous cycles patients with advanced solid tumors. 2A II) enrolled platinum-sensitive, high-grade ovarian carcinoma (HGOC) associated germline BRCA1/2 mutation who received two four prior...
Research Article30 October 2018Open Access Source DataTransparent process A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation Marta Castroviejo-Bermejo Experimental Therapeutics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain Search for more papers by this author Cristina Cruz High Risk and Familial Cancer Department Medical Hospital d'Hebron, Universitat Autònoma de Alba Llop-Guevara Sara Gutiérrez-Enríquez Oncogenetics Mandy Ducy...
Knowledge of genetic susceptibility to gastrointestinal cancers is constantly evolving with identification new genes. Similarly, a better understanding the genotype/phenotype relationship in patients Lynch syndrome (LS) or familial adenomatous polyposis (FAP) leading more individualised surveillance recommendations. In addition, molecular profiling cancer has been shown guide targeted therapies, such as immunotherapy. Specialists involved care should be familiar main hereditary syndromes and...
•We observed an objective response to olaparib in 18 out of 32 (56%) unselected, primary triple negative breast cancers.•Homologous recombination deficiency (HRD) was determined by targeted DNA sequencing and BRCA1 methylation.•HRD predictive present 16 responders.•HRD also beyond germline BRCA1/2 gPALB2 mutations; 12 14 responders.•Olaparib associated with minor side-effects did not influence subsequent tolerance chemotherapy. BackgroundThe antitumor efficacy PARP inhibitors (PARPi) for...
There is a growing need for systems that efficiently support the work of medical teams at precision-oncology point care. Here, we present implementation Molecular Tumor Board Portal (MTBP), an academic clinical decision system developed under umbrella Cancer Core Europe creates unified legal, scientific and technological platform to share harness next-generation sequencing data. Automating interpretation reporting results decrease time-consuming manual procedures are prone errors. The...
ASCO Guidelines provide recommendations with comprehensive review and analyses of the relevant literature for each recommendation, following guideline development process as outlined in Methodology Manual . follow Conflict Interest Policy Clinical Practice other guidance (“Guidance”) provided by is not a or definitive guide to treatment options. It intended voluntary use providers should be used conjunction independent professional judgment. Guidance may applicable all patients,...
Resistance to therapies that target homologous recombination deficiency (HRD) in breast cancer limits their overall effectiveness. Multiple, preclinically validated, mechanisms of resistance have been proposed, but existence and relative frequency clinical disease are unclear, as is how resistance.