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List of works by Judith Balmaña

A 10-year step forward in hereditary cancer in Spain

article

A Phase I-II Study of the Oral PARP Inhibitor Rucaparib in Patients with Germline BRCA1/2-Mutated Ovarian Carcinoma or Other Solid Tumors

scientific article published on 6 March 2017

A Phase II Study of Talazoparib after Platinum or Cytotoxic Nonplatinum Regimens in Patients with Advanced Breast Cancer and Germline BRCA1/2 Mutations (ABRAZO)

scientific article published on 18 December 2018

A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

scientific article published on 01 December 2018

A decade of clinical development of PARP inhibitors in perspective

scientific article published on 01 September 2019

A narrative overview of the patients' outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling

scientific article published on 23 November 2018

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

scientific article

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

scientific article published on May 2014

Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation

scientific article published on 26 February 2018

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

scientific article published on 14 December 2018

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

scientific article published on 12 July 2016

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

scientific article

Antitumor activity of the poly(ADP-ribose) polymerase inhibitor rucaparib as monotherapy in patients with platinum-sensitive, relapsed, BRCA-mutated, high-grade ovarian cancer, and an update on safety

scientific article published on 01 November 2019

Análisis del haplotipo en portadores de la mutación 6857delAA en el gen BRCA2 en 4 familias con cáncer de mama u ovario hereditario

scientific article published on 01 October 2004

Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).

scientific article published on 27 August 2013

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

scientific article published on 13 November 2019

Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis.

scientific article published on 13 March 2007

BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors

scientific article published on 01 June 2006

BRCA in breast cancer: ESMO Clinical Practice Guidelines

scientific article published on 01 September 2011

BRCA in breast cancer: ESMO Clinical Practice Guidelines

scientific article published on 01 May 2010

BRCA in breast cancer: ESMO clinical recommendations

scientific article published on May 2009

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

scientific article published on 03 July 2019

BRCA1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1

scientific article published on 25 July 2016

BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families

article

BRIP1 as an ovarian cancer susceptibility gene: ready for the clinic?

scientific article published on 27 August 2015

CDK12 Inhibition Reverses De Novo and Acquired PARP Inhibitor Resistance in BRCA Wild-Type and Mutated Models of Triple-Negative Breast Cancer

scientific article published in November 2016

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Características clinicopatológicas y evolución clínica de pacientes con cáncer de mama y mutaciones en los genes BRCA1 o BRCA2

article

Caution Should Be Used When Interpreting Alterations Affecting the Exon 3 of the BRCA2 Gene in Breast/Ovarian Cancer Families

article

Challenges to the Development of New Agents for Molecularly Defined Patient Subsets: Lessons FromBRCA1/2-Associated Breast Cancer

article

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

scientific article published on 19 July 2011

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin

scientific article published on 21 March 2012

Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

scientific article published on 18 June 2019

Chromosome fragility in the buccal epithelium in patients with Fanconi anemia

scientific article published on 10 December 2019

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 consequences of BRCA2 hypomorphism

publication published on 09 September 2021

Clinical subtypes and molecular characteristics of serrated polyposis syndrome

scientific article

Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.

scientific article published on 18 November 2015

Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes

scientific article published in April 2004

Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients

article

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

scientific article published on 16 February 2012

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

scientific article published on 05 July 2020

Comprehensive functional assessment of MLH1 variants of unknown significance

scientific article published on 12 July 2012

Comprehensive genetic and endoscopic evaluation may be necessary to distinguish sporadic versus familial adenomatous polyposis–associated abdominal desmoid tumors

scientific article published on 01 June 2004

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

article

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

scientific article published on 12 September 2016

Consensus on hereditary cancer between the Spanish Oncology Society and the primary care societies

scientific article published on 13 March 2013

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

scientific article

Data reduction for prediction: a case study on robust coding of age and family history for the risk of having a genetic mutation

scientific article published in December 2007

Desarrollo y aplicación de modelos predictivos en el síndrome de Lynch

scientific article published on 14 May 2009

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

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.

scientific article published on 16 September 2014

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

Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

article

Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy

scientific article

ESMO Consensus Guidelines for management of patients with colon and rectal cancer. A personalized approach to clinical decision making

scientific article published on 01 October 2012

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

scientific article published on 23 December 2015

European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer

scientific article published on 22 November 2018

Evidence for a link between TNFRSF11A and risk of breast cancer

article

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

Factors associated with enrollment in cancer genetics research

scientific article published on July 2006

Familial colorectal cancer risk: ESMO Clinical Practice Guidelines

scientific article published on 01 May 2010

Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines

scientific article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Fungal infections in patients with solid tumors treated with high-dose chemotherapy and autologous peripheral blood stem cell transplantation

scientific article published in August 2001

Genetic counseling program in familial breast cancer: Analysis of its effectiveness, cost and cost-effectiveness ratio

article

Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer—an European consensus statement and expert recommendations

article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

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

scientific article (publication date: 2013)

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 BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics

scientific article published on 07 January 2016

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.

scientific article

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.

scientific article published on 27 April 2013

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

scientific article

Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†

scientific article published on 01 October 2019

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing

article

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

scientific article

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

scientific article published on 23 October 2017

Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

scientific article published on 26 August 2019

Increased Risk of Colorectal Cancer in Patients With Multiple Serrated Polyps and Their First-Degree Relatives.

scientific article published on 8 April 2017

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

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

Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy

scientific article

Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up?

scientific article published in September 2011

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

article

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Mammographic density and breast cancer in women from high risk families

scientific article published on 11 July 2015

Management of the axilla in early breast cancer patients in the genomic era.

scientific article

Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome

scientific article published on 01 August 2002

Microsatellite instability due to hMLH1 deficiency is associated with increased cytotoxicity to irinotecan in human colorectal cancer cell lines

scientific article published on 21 October 2008

Mismatch repair gene analysis in Catalonian families with colorectal cancer

scientific article published in June 2002

Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status

scientific article

Moving From Poly (ADP-Ribose) Polymerase Inhibition to Targeting DNA Repair and DNA Damage Response in Cancer Therapy

scientific article published on 03 May 2019

Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy

scientific article published on 21 September 2018

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

article

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.

scientific article published on 31 July 2013

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.

scientific article published in February 2013

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

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

scientific article

Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation

scientific article published on 03 November 2014

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

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

scientific article published on 05 October 2019

PARP inhibitors in ovarian cancer

scientific article published on December 2015

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

scientific article published on March 2017

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article published on 16 April 2009

Phase I trial of olaparib in combination with cisplatin for the treatment of patients with advanced breast, ovarian and other solid tumors

article

Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States

scientific article published in August 2008

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Prediction models in Lynch syndrome

scientific article published on June 2013

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

scientific article

Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome

scientific article published in The Journal of the American Medical Association

Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.

scientific article published on 27 January 2014

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

scientific article published on 18 June 2014

Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening†

scientific article published on 01 September 2016

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

Quality of life with talazoparib after platinum or multiple cytotoxic non-platinum regimens in patients with advanced breast cancer and germline BRCA1/2 mutations: patient-reported outcomes from the ABRAZO phase 2 trial

scientific article published on 22 October 2018

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA mutated breast cancer.

scientific article published on 4 April 2018

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

article

RNA analysis of eightBRCA1andBRCA2unclassified variants identified in breast/ovarian cancer families from Spain

article

Reply to R.L. Nussbaum et al and J.S. Dolinsky et al.

scientific article

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

scientific article published on 16 July 2018

SEOM clinical guidelines in Hereditary Breast and ovarian cancer

scientific article

SOLTI NeoPARP: a phase II randomized study of two schedules of iniparib plus paclitaxel versus paclitaxel alone as neoadjuvant therapy in patients with triple-negative breast cancer

scientific article

Screening for Lynch syndrome among patients with newly diagnosed endometrial cancer: a comprehensive review

scientific article published on 15 July 2015

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

scientific article published on 24 November 2018

Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review

scientific article

Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?

scientific article

Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers

scientific article published on June 2011

The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin

scientific article published on May 2016

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history

scientific article published on 19 August 2010

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

scientific article published on 26 January 2020

The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

scientific article

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

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

scientific article published in December 2003

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

scientific article published in September 2010

Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients

scientific article published on 26 October 2007

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

[Abdominal pain as the initial symptom of visceral varicella zoster infection in hematopoietic stem cell transplant recipients]

scientific article published on 01 June 1998

[Balint's syndrome secondary to progressive multifocal leukoencephalopathy in a patient with acquired immunodeficiency syndrome]

scientific article published on 01 September 1998

cCD79a expression in a case of plasma cell leukemia

scientific article published in July 1998

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