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Author Details

Ana Osorio
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre
1997
159
54
PMIDPaper TitleJournal TitlePublished Year
37865290A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.J Mol Diagn2024
36948887p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study.J Pathol Clin Res2023
35084436Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.JAMA Oncol2022
35737787Small-molecule activation of OGG1 increases oxidative DNA damage repair by gaining a new function.Science2022
35595798Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.Sci Rep2022
35619904OGG1 Inhibition Triggers Synthetic Lethality and Enhances The Effect of PARP Inhibitor Olaparib in BRCA1-Deficient TNBC Cells.Front Oncol2022
35933885Incorporating progesterone receptor expression into the PREDICT breast prognostic model.Eur J Cancer2022
36230663A Large Case-Control Study Performed in Spanish Population Suggests That <i>RECQL5</i> Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.Cancers (Basel)2022
33471991Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.N Engl J Med2021
33568707Small molecule inhibitor of OGG1 blocks oxidative DNA damage repair at telomeres and potentiates methotrexate anticancer effects.Sci Rep2021
33990587Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.Nat Commun2021
33280026A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.Clin Chem2021
32554541Development and Validation of the Gene Expression Predictor of High-grade Serous Ovarian Carcinoma Molecular SubTYPE (PrOTYPE).Clin Cancer Res2020
31723001Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness.Cancer Res2020
31797087Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH).Virchows Arch2020
32107557Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.J Natl Cancer Inst2020
31792088Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium.Cancer Epidemiol Biomarkers Prev2020
32555365Clinical and pathological associations of PTEN expression in ovarian cancer: a multicentre study from the Ovarian Tumour Tissue Analysis Consortium.Br J Cancer2020
30683880Shared heritability and functional enrichment across six solid cancers.Nat Commun2019
31548585Publisher Correction: Shared heritability and functional enrichment across six solid cancers.Nat Commun2019
30817846RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.Hum Mutat2019
30747491A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers.Mol Oncol2019
28837162Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.Genet Med2018
30054336A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.Cancer Res2018
31360853Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study.JNCI Cancer Spectr2018
30873510The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With <i>BRCA1</i> or <i>BRCA2</i> Mutations.JNCI Cancer Spectr2018
29446198Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.Hum Mutat2018
27913932Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.Breast Cancer Res Treat2017
28448241Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.J Clin Oncol2017
28346442Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.Nat Genet2017
28283652<i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Cancer Res2017
29383107Genetic variation in the <i>NEIL2</i> DNA glycosylase gene is associated with oxidative DNA damage in <i>BRCA2</i> mutation carriers.Oncotarget2017
29058716Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.Nat Genet2017
29049607Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer.JAMA Oncol2017
28829762Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.Br J Cancer2017
28632866Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.JAMA2017
27796716Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.Breast Cancer Res Treat2017
25940428No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.Gynecol Oncol2016
27601076Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.Nat Commun2016
27742776Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.Hum Mol Genet2016
27117709Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.Nat Commun2016
27459855Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.Breast Cancer Res2016
26857456Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.Breast Cancer Res2016
27015555Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.Oncotarget2016
26928228Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Nat Genet2016
24917463MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors.Int J Cancer2015
26586665BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.J Natl Cancer Inst2015
26130695FANCM c.5791C&gt;T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.Hum Mol Genet2015
26071757DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.Breast Cancer Res Treat2015
25830658Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.PLoS One2015
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Pomeranian Medical University
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David Geffen School of Medicine, University of California los angeles
Co-authored papers 37
The Institute of Cancer Research
Co-authored papers 37
QIMR Berghofer Medical Research Institute
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Dana-Farber Cancer Institute
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Center for Cancer Genetic Epidemiology, University of Cambridge
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International Hereditary Cancer Center, Pomeranian Medical University
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Center for Cancer Equity and Engagement, Dana-Farber/Harvard Cancer Center
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Guy's and St Thomas' NHS Foundation Trust
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Cedars-Sinai Medical Center
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