about
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskIdentification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy.The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history.Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.Data reduction for prediction: a case study on robust coding of age and family history for the risk of having a genetic mutation.Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation statusLocal therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy.Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines.Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer casesMammographic density and breast cancer in women from high risk families.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorNovel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer.Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.SEOM clinical guidelines in Hereditary Breast and ovarian cancer.Factors associated with enrollment in cancer genetics research.Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients.The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin.Microsatellite instability due to hMLH1 deficiency is associated with increased cytotoxicity to irinotecan in human colorectal cancer cell lines.Prediction models in Lynch syndrome.BRCA1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1SOLTI 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.Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy.BRCA in breast cancer: ESMO clinical recommendations.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.Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers.Management of the axilla in early breast cancer patients in the genomic era.About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.Screening for Lynch syndrome among patients with newly diagnosed endometrial cancer: a comprehensive review.Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review.Increased Risk of Colorectal Cancer in Patients With Multiple Serrated Polyps and Their First-Degree Relatives.A Phase I-II Study of the Oral PARP Inhibitor Rucaparib in Patients with Germline BRCA1/2-Mutated Ovarian Carcinoma or Other Solid Tumors.Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancerAssociation of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).
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description
hulumtuese
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researcher
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ricercatrice
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wetenschapper
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հետազոտող
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name
Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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type
label
Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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Dr. Judith Balmaña
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prefLabel
Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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Judith Balmaña
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P21
P214
6977147907514279210008
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P496
0000-0002-0762-6415
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