0000000000017136

AUTHOR

Ana Patiño-garcía

showing 3 related works from this author

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure

2021

Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10–25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the population into subtypes of OF. This study sought to identify a blood-based gene variant profile using accumulation of rare variants to promote precision medicine in fertility preservation programs. A case–control (n = 118, n = 32, respectively) WES study was performed in which only non-synonymous rare variants &lt

0301 basic medicineInfertilityOncologygenomic taxonomymedicine.medical_specialtyprecision medicineovarian failurePopulationMedicine (miscellaneous)BiologyGenoma humàArticlewhole exome sequencing03 medical and health sciences0302 clinical medicineInternal medicinemedicinesingle nucleotide variantFertility preservationeducationGeneExome sequencingeducation.field_of_study030219 obstetrics & reproductive medicinebusiness.industryRpersonalized medicinePrecision medicinemedicine.diseaseprediction modelMinor allele frequency030104 developmental biologyGinecologiaMedicineovaryPersonalized medicineinfertilitybusinessgenome variant profileJournal of Personalized Medicine
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

2015

BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.METHODS: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cance…

MaleCancer ResearchLung NeoplasmsLymphomaGenome-wide association studyPolymorphism (computer science)NeoplasmsMedicineChronicGeneticsOsteosarcomaOncology And CarcinogenesisLeukemiaSmokingFamily aggregationSingle NucleotideMiddle AgedFamilial riskDiffuseKidney NeoplasmsLymphocyticOncologyAdult; Aged; Asian Continental Ancestry Group; Bone Neoplasms; European Continental Ancestry Group; Female; Humans; Kidney Neoplasms; Leukemia Lymphocytic Chronic B-Cell; Lung Neoplasms; Lymphoma Large B-Cell Diffuse; Male; Middle Aged; Neoplasms; Osteosarcoma; Polymorphism Single Nucleotide; Smoking; Testicular Neoplasms; Tissue Array Analysis; Urinary Bladder Neoplasms; Genetic Predisposition to Disease; Genome-Wide Association StudyFemaleLymphoma Large B-Cell DiffuseAdultAsian Continental Ancestry GroupEuropean Continental Ancestry Group/Bone NeoplasmsPolymorphism Single NucleotideGenetic correlationTesticular NeoplasmsLarge B-CellHumansGenetic Predisposition to DiseaseOncology & CarcinogenesisPolymorphismAgedbusiness.industryExtramuralB-CellCancerHeritabilityGenome-wide association studies for thirteen cancer typesmedicine.diseaseLeukemia Lymphocytic Chronic B-CellUrinary Bladder NeoplasmsTissue Array AnalysisbusinessGenome-Wide Association StudyJournal of the National Cancer Institute
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Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EG…

2020

The etiology and the molecular basis of lung adenocarcinomas (LuADs) in nonsmokers are currently unknown. Furthermore, the scarcity of available primary cultures continues to hamper our biological understanding of non-smoking-related lung adenocarcinomas (NSK-LuADs). We established patient-derived cancer cell (PDC) cultures from metastatic NSK-LuADs, including two pairs of matched EGFR-mutant PDCs before and after resistance to tyrosine kinase inhibitors (TKIs), and then performed whole-exome and RNA sequencing to delineate their genomic architecture. For validation, we analyzed independent cohorts of primary LuADs. In addition to known non-smoker-associated alterations (e.g. RET, ALK, EGFR…

0301 basic medicineLung NeoplasmsEGFRUbiquitin-Protein LigasesAdenocarcinoma of Lungmedicine.disease_cause03 medical and health sciences0302 clinical medicineGermline mutationtyrosine kinase inhibitorsmedicineGenetic predispositionHumanswhole-exome sequencingLung cancerGeneProtein Kinase InhibitorsExome sequencingMutationbusiness.industryEGFR RB1 lung adenocarcinoma nonsmokers tyrosine kinase inhibitors whole-exome sequencingHematologyrespiratory systemmedicine.diseaselung adenocarcinomadigestive system diseasesrespiratory tract diseasesErbB ReceptorsRetinoblastoma Binding Proteins030104 developmental biologyOncologyDrug Resistance Neoplasm030220 oncology & carcinogenesisCancer cellMutationCancer researchbusinessRB1Tyrosine kinaseMicrotubule-Associated Proteinsnonsmokers
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