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List of works by Judith Balmaña

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

scientific article published on 03 November 2014
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
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)
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
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article
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
BRCA in breast cancer: ESMO Clinical Practice Guidelines

scientific article published on 01 September 2011
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
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
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
Phase I trial of olaparib in combination with cisplatin for the treatment of patients with advanced breast, ovarian and other solid tumors

article
Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome

scientific article published in The Journal of the American Medical Association
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
Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018
The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin

scientific article published on May 2016
Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy

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

scientific article published on 25 July 2016
Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort

scientific article
Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines

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

scientific article published on 19 July 2011
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

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

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

scientific article published on 16 April 2009
Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.

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

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

scientific article published on 26 October 2007
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
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

scientific article published on 18 June 2014
Factors associated with enrollment in cancer genetics research

scientific article published on July 2006
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
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
SEOM clinical guidelines in Hereditary Breast and ovarian cancer

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

scientific article published on 22 July 2010
BRCA in breast cancer: ESMO clinical recommendations

scientific article published on May 2009
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

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

scientific article published on 01 December 2018
Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review

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

article
A decade of clinical development of PARP inhibitors in perspective

scientific article published on 01 September 2019
Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status

scientific article
BRCA in breast cancer: ESMO Clinical Practice Guidelines

scientific article published on 01 May 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
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.

scientific article published on 27 January 2014
Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis

scientific article published on 13 March 2007

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