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List of works by Joan Brunet

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

scientific article

A retrospective, multicenter study of the efficacy of lapatinib plus trastuzumab in HER2-positive metastatic breast cancer patients previously treated with trastuzumab, lapatinib, or both: the Trastyvere study

scientific article published on 15 June 2019

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

scientific article published on 2 April 2008

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

scientific article

An update of the mechanisms of resistance to EGFR-tyrosine kinase inhibitors in breast cancer: Gefitinib (Iressa) -induced changes in the expression and nucleo-cytoplasmic trafficking of HER-ligands (Review).

scientific article published on July 2007

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

scientific article

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

scientific article

Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals

scientific article published on 18 November 2020

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

article

Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers

scientific article published on 27 November 2019

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

scientific article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Attenuation of RNA polymerase II pausing mitigates BRCA1-associated R-loop accumulation and tumorigenesis.

scientific article

Author Correction: Attenuation of RNA polymerase II pausing mitigates BRCA1-associated R-loop accumulation and tumorigenesis.

scientific article

BRCA1 and acetyl-CoA carboxylase: the metabolic syndrome of breast cancer

scientific article

BRCA1 haploinsufficiency cell-autonomously activates RANKL expression and generates denosumab-responsive breast cancer-initiating cells

scientific article

BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families

article

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

BRCA2 germ-line mutations in Spanish male breast cancer patients

article

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

scientific article published on 04 January 2017

Bone Marrow Transplantation: Prognostic Factors of Peripheral Blood Stem Cell Mobilization with Cyclophosphamide and Filgrastim (r-metHuG-CSF): The CD34+ Cell Dose Positively Affects the Time to Hematopoietic Recovery and Supportive Requirements afte

scientific article published on 01 January 1999

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

CA-125 Response Patterns in Patients With Recurrent Ovarian Cancer Treated With Pegylated Liposomal Doxorubicin (PLD)

scientific article published on 01 January 2010

Cancer develops, progresses and responds to therapies through restricted perturbation of the protein-protein interaction network

scientific article

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Cavitary pneumonia in a neutropenic patient

scientific article published in September 1995

Chemotherapy And Radiotherapy In Locally Advanced Cervical Cancer

scientific article published on 01 January 1995

Chop Chemotherapy of Intermediate and High-Grade Non-Hodgkin's Lymphoma

scientific article published on 01 January 1994

Clinical and pathological characteristics in patients with BRCA1/2-mutation associated with breast cancer (BC) with a long clinical follow-up.

scientific article published on 12 March 2000

Clinical and pathological findings of BRCA1/2 associated breast cancer

scientific article published in February 2001

Clinical portrait of the SARS-CoV-2 epidemic in European cancer patients

scientific article published on 31 July 2020

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia

scientific article published on 29 September 2020

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

scientific article published on 05 July 2020

Comprehensive Functional Assessment ofMLH1Variants of Unknown Significance

article published in 2012

Comprehensive functional assessment of MLH1 variants of unknown significance

scientific article published on 12 July 2012

Computational de-orphanization of the olive oil biophenol oleacein: Discovery of new metabolic and epigenetic targets

scientific article published on 29 May 2019

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes

scientific article published on 29 July 2019

Cost-effectiveness analysis of molecular testing in minimally invasive samples to detect endometrial cancer in women with postmenopausal bleeding

scientific article published in 2023

Costs and ethical issues related to first-line treatment of metastatic non-small-cell lung cancer: considerations from a public healthcare system perspective

article

Cross-suppression of EGFR ligands amphiregulin and epiregulin and de-repression of FGFR3 signalling contribute to cetuximab resistance in wild-type KRAS tumour cells

scientific article published on April 2012

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

scientific article published on 6 March 2018

Defining a mutational signature for endometrial cancer screening and early detection

scientific article published on 22 June 2019

Descripción de una nueva mutación germinal en el gen TP53 en una familia con síndrome de Li-Fraumeni. Asesoramiento clínico a los portadores sanos

scientific article published on 01 October 2002

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Differences in phenotypic expression of a new BRCA1 mutation in identical twins

scientific article published in The Lancet

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

scientific article published on 22 December 2018

Dynamic emergence of the mesenchymal CD44(pos)CD24(neg/low) phenotype in HER2-gene amplified breast cancer cells with de novo resistance to trastuzumab (Herceptin).

scientific article

Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene

scientific article published in October 2004

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

scientific article published on 2 June 2017

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

scientific article published on 20 April 2016

Ethics competences in the undergraduate medical education curriculum: the Spanish experience.

scientific article published on October 2016

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

scientific article published on 19 June 2020

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

scientific article

Evidence for a link between TNFRSF11A and risk of breast cancer

article

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

scientific article published on 12 January 2018

Evolution of the predictive markers amphiregulin and epiregulin mRNAs during long-term cetuximab treatment of KRAS wild-type tumor cells

scientific article published on 16 December 2010

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Exploring the link between germline and somatic genetic alterations in breast carcinogenesis

scientific article

Fatty acid metabolism in breast cancer cells: differential inhibitory effects of epigallocatechin gallate (EGCG) and C75.

scientific article published on 28 September 2007

Fatty acid synthase activity regulates HER2 extracellular domain shedding into the circulation of HER2-positive metastatic breast cancer patients.

scientific article

Fatty acid synthase expression and its association with clinico-histopathological features in triple-negative breast cancer

scientific article

Function preservation in stage III squamous laryngeal carcinoma: results with an induction chemotherapy protocol

scientific article published on 01 August 1995

Functional and structural analysis of C-terminal BRCA1 missense variants

scientific article

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

GALNT12 is not a major contributor of familial colorectal cancer type X.

scientific article

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

scientific article published on 15 January 2009

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

scientific article published on 29 March 2011

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

scientific article

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

scientific article published on 15 February 2018

Germline variation in O6-methylguanine-DNA methyltransferase (MGMT) as cause of hereditary colorectal cancer

scientific article published on 21 January 2019

Giacomo Castelvetro's salads. Anti-HER2 oncogene nutraceuticals since the 17th century?

scientific article published on January 2008

Green tea catechin inhibits fatty acid synthase without stimulating carnitine palmitoyltransferase-1 or inducing weight loss in experimental animals.

scientific article

Growth and molecular interactions of the anti-EGFR antibody cetuximab and the DNA cross-linking agent cisplatin in gefitinib-resistant MDA-MB-468 cells: new prospects in the treatment of triple-negative/basal-like breast cancer.

scientific article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

Hereditary breast cancer and genetic counseling in young women

scientific article published on 14 August 2010

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

scientific article published on 07 September 2019

Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

scientific article published on 28 November 2019

Identificación de dos familias con cáncer de colon hereditario no polipósico (CCHNP) y criterios de Amsterdam. Relevancia del árbol genealógico y las medidas de seguimiento

scientific article published on 01 January 2000

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

scientific article

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.

scientific article

Identification of a novel pathogenic mutation in BRCA2 in a Spanish breast-ovarian cancer family

scientific article published in October 2009

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population

article

Infectious complications in 126 patients treated with high-dose chemotherapy and autologous peripheral blood stem cell transplantation

scientific article published on 01 January 1999

Inhibition of Fatty Acid Synthase (FASN) synergistically enhances the efficacy of 5-fluorouracil in breast carcinoma cells.

scientific article published in October 2007

Inhibitor of Apoptosis (IAP) survivin is indispensable for survival of HER2 gene-amplified breast cancer cells with primary resistance to HER1/2-targeted therapies

article

Integrating gene expression and epidemiological data for the discovery of genetic interactions associated with cancer risk

scientific article

Interferon/STAT1 and neuregulin signaling pathways are exploratory biomarkers of cetuximab (Erbitux®) efficacy in KRAS wild-type squamous carcinomas: a pathway-based analysis of whole human-genome microarray data from cetuximab-adapted tumor cell-li

scientific article

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer.

scientific article published on February 2000

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

scientific article published on 16 January 2016

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Low-scale phosphoproteome analyses identify the mTOR effector p70 S6 kinase 1 as a specific biomarker of the dual-HER1/HER2 tyrosine kinase inhibitor lapatinib (Tykerb) in human breast carcinoma cells.

scientific article published on 17 February 2008

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

article

MLH1 methylation screening is effective in identifying epimutation carriers

scientific article

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study

scientific article

Mammographic density and breast cancer in women from high risk families

scientific article published on 11 July 2015

Measurement of the mass and width of the Z0-particle from multihadronic final states produced in e+e− annihilations

article

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Metformin Is a Direct SIRT1-Activating Compound: Computational Modeling and Experimental Validation

scientific article published on 06 November 2018

Metformin induces a fasting- and antifolate-mimicking modification of systemic host metabolism in breast cancer patients.

scientific article

Mismatch repair gene analysis in Catalonian families with colorectal cancer

scientific article published in June 2002

Modeling Reuse on Case-Based Reasoning with Application to Breast Cancer Diagnosis

Modification of BRCA1-associated breast cancer risk by HMMR overexpression

scientific article published on 07 April 2022

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

scientific article published on 21 June 2019

Neoadjuvant Metformin Added to Systemic Therapy Decreases the Proliferative Capacity of Residual Breast Cancer

scientific article published on 11 December 2019

Neuroendocrine tumors: A population-based study of incidence and survival in Girona province, 1994–2004

scientific article published on 16 August 2011

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

scientific article

New perspectives on screening and early detection of endometrial cancer

scientific article published on 28 June 2019

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

scientific article

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures

scientific article published on 20 November 2018

Ofuji's papuloerythroderma following choledocholithiasis with secondary sepsis: complete resolution with surgery

scientific article published on 01 March 1998

Olive oil's bitter principle reverses acquired autoresistance to trastuzumab (Herceptin) in HER2-overexpressing breast cancer cells.

scientific article

Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort

scientific article

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

scientific article published on 15 April 2019

Overexpression of fatty acid synthase gene activates HER1/HER2 tyrosine kinase receptors in human breast epithelial cells

scientific article published on February 2008

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

scientific article

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Pathway-focused proteomic signatures in HER2-overexpressing breast cancer with a basal-like phenotype: new insights into de novo resistance to trastuzumab (Herceptin).

scientific article published on September 2010

Pharmacological blockade of fatty acid synthase (FASN) reverses acquired autoresistance to trastuzumab (Herceptin by transcriptionally inhibiting 'HER2 super-expression' occurring in high-dose trastuzumab-conditioned SKBR3/Tzb100 breast cancer cells

scientific article published in October 2007

Postpubertal cryptorchism. Morphofunctional study with special reference to Leydig's cells

scientific article published on 01 January 1989

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients.

scientific article published on March 1999

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.

scientific article

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

scientific article published on 18 June 2014

Prevention of irinotecan associated diarrhea by intestinal alkalization. A pilot study in gastrointestinal cancer patients

scientific article

Primary breast cancer and health related quality of life in Spanish women: The EpiGEICAM case-control study

scientific article published on 08 May 2020

Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

scientific article published on 2 March 2018

Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study

scientific article published on 24 September 2019

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Radial access for primary PCI: a change of paradigm

Scientific article published 1 October 2010

Randomized trial of neoadjuvant cisplatin and fluorouracil versus carboplatin and fluorouracil in patients with stage IV-M0 head and neck cancer

scientific article published on 01 June 1995

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants

scientific article

Response of brain metastasis from lung cancer patients to an oral nutraceutical product containing silibinin

scientific article published on 03 March 2016

Resveratrol targets PD-L1 glycosylation and dimerization to enhance antitumor T-cell immunity

scientific article published on 04 January 2020

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

scientific article published on 18 July 2020

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

scientific article published on 01 December 2020

Role of the CDKN2A locus in patients with multiple primary melanomas

scientific article published on May 2005

SEOM clinical guidelines for hereditary cancer ⬇️

scientific article published on 01 August 2011

SEOM clinical guidelines in Hereditary Breast and ovarian cancer

scientific article

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

scientific article published on 8 February 2016

Sequence-dependent synergism and antagonism between paclitaxel and gemcitabine in breast cancer cells: the importance of scheduling

scientific article published on January 2008

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Silibinin administration improves hepatic failure due to extensive liver infiltration in a breast cancer patient

article published in 2014

Silibinin and SARS-CoV-2: Dual Targeting of Host Cytokine Storm and Virus Replication Machinery for Clinical Management of COVID-19 Patients

scientific article published on 07 June 2020

Somatic DICER1 mutations in adult-onset pulmonary blastoma

scientific article

Stem cell property epithelial-to-mesenchymal transition is a core transcriptional network for predicting cetuximab (Erbitux™) efficacy in KRAS wild-type tumor cells

scientific article published on January 2011

Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition.

scientific article

Subgroup Discovery for Weight Learning in Breast Cancer Diagnosis

Successful empirical erlotinib treatment of a mechanically ventilated patient newly diagnosed with metastatic lung adenocarcinoma

scientific article published on 24 July 2014

Synthetic lethal interaction of cetuximab with MEK1/2 inhibition in NRAS-mutant metastatic colorectal cancer

scientific article published on 12 September 2016

TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes

scientific article published on 30 September 2020

Teaching Bioethics to Students of Medicine with Problem-Based Learning (PBL)

scientific article published in May 2015

The "Psychosocial Aspects in Hereditary Cancer" questionnaire in women attending breast cancer genetic clinics: Psychometric validation across French-, German- and Spanish-language versions

scientific article published on 30 September 2019

The Allele of rs11212617 Associates With Higher Pathological Complete Remission Rate in Breast Cancer Patients Treated With Neoadjuvant Metformin

scientific article published on 28 March 2019

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

The extra virgin olive oil phenolic oleacein is a dual substrate-inhibitor of catechol-O-methyltransferase

scientific article published on 29 March 2019

Transcriptional upregulation of HER2 expression in the absence of HER2 gene amplification results in cetuximab resistance that is reversed by trastuzumab treatment.

scientific article

Treatment of oesophageal cancer with preoperative chemoradiotherapy may increase operative mortality.

scientific article published in December 2003

Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family

article

Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain

scientific article published in September 2010

VAV3 mediates resistance to breast cancer endocrine therapy.

scientific article

Vaccination against SARS-CoV-2 protects from morbidity, mortality and sequelae from COVID19 in patients with cancer

What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure?

scientific article published on 28 February 2012

[10 Year follow up of chemotherapy and surgery on the second laparotomy in advanced ovarian cancer]

scientific article published on 01 February 1995

[Dermatomyositis and head and neck neoplasia]

scientific article published on 01 January 1995

[Esthesioneuroblastoma: experience from 4 cases treated with radiotherapy and neoadjuvant chemotherapy]

scientific article published on 01 March 1995

[Hereditary breast cancer: genetic bases and clinical features]

scientific article published on 01 November 1994

[High-dosage chemotherapy in breast cancer]

scientific article published on 01 March 1997

[Right supraclavicular adenopathy]

scientific article published on 01 June 1995

eXiT*CBR: A framework for case-based medical diagnosis development and experimentation

scientific article published on 25 October 2010

p53 in breast cancer. Its relation to histological grade, lymph-node status, hormone receptors, cell-proliferation fraction (ki-67) and c-erbB-2. Immunohistochemical study of 153 cases

scientific article published on 01 July 1995

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