Ana Osorio - Genetic Mutations

Author Information

Ana Osorio is a prominent researcher affiliated with the Human Genetics Group at the Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), located in Madrid, Spain. Her work primarily focuses on genetic risk factors associated with cancer, particularly breast and ovarian cancers. Osorio's research aims to improve the understanding of hereditary cancer mechanisms, contributing significantly to the field of human genetics and oncology.

Research Contributions

Ana Osorio has made substantial contributions to understanding the genetic underpinnings of cancer risk. Her research includes polygenic risk modeling for epithelial ovarian cancer, identifying genetic modifiers for breast cancer risk in BRCA1/BRCA2 mutation carriers, and investigating the pathology of tumors associated with pathogenic germline variants in breast cancer susceptibility genes. Osorio has also explored the effects of oral contraceptive use on ovarian cancer risk and studied cross-cancer genetic associations between endometrial and epithelial ovarian cancers. Her work is highly collaborative, aiming to refine classification criteria for ATM variants in hereditary cancer patients and exploring novel therapeutic avenues, such as the use of small molecule inhibitors to potentiate anticancer effects.

Aliases

Ana Osorio is also known by the aliases A Osorio and A. Osorio.

Publication and Citation Metrics

Metric	Value
Citation Count	13,268
h-index	63
Paper Count	210

Publications:

Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

DOI: 10.1038/s41431-022-01085-y

Year: 2022

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

DOI: 10.1001/jamaoncol.2021.6744

Year: 2022

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

DOI: 10.1038/s41431-021-00987-7

Year: 2022

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

DOI: 10.1038/s41467-020-20496-3

Year: 2021

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

DOI: 10.1056/NEJMoa1913948

Year: 2021

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

DOI: 10.1038/s41467-021-23162-4

Year: 2021

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

DOI: 10.1016/j.ajog.2021.01.014

Year: 2021

Small molecule inhibitor of OGG1 blocks oxidative DNA damage repair at telomeres and potentiates methotrexate anticancer effects

DOI: 10.1038/s41598-021-82917-7

Year: 2021

Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers

DOI: 10.1158/1055-9965.EPI-20-0739

Year: 2020

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

DOI: 10.1093/clinchem/hvaa250

Year: 2020

Why is Sanger Sequencing Important in Studying Genetic Mutations?

How is Cellular Heterogeneity Studied?

How Do Mutagens Cause Genetic Mutations?

Why is Sequencing Important for Studying Genetic Mutations?

What is the Role of Epigenetics?

Can Mutagens Be Prevented?

What Is the Significance of Synonymous Mutations in Evolution?

What are the Symptoms?

What Types of Genetic Mutations Are Involved?

How Can Genetic Counseling Help Families Affected by the Delta F508 Mutation?

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