0000000000010518

AUTHOR

Mercedes Durán

0000-0002-6301-9732

showing 4 related works from this author

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

2011

[Background]: Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investi…

OncologyCancer Researchendocrine system diseasesGenes BRCA2Genes BRCA1Genome-wide association studyFAMILIES0302 clinical medicineRisk FactorsRetrospective StudieGenotypeOdds Ratioskin and connective tissue diseasesPOPULATIONGeneticsOvarian NeoplasmsAged 80 and overAllele0303 health scienceseducation.field_of_studyLikelihood FunctionsArticlesGERMLINE MUTATIONSMiddle AgedLikelihood Functionfemale genital diseases and pregnancy complications3. Good healthOncology030220 oncology & carcinogenesisFemaleChromosomes Human Pair 9HumanAdult[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]medicine.medical_specialtyHeterozygoteSUSCEPTIBILITY LOCIGenotypePROTEINSPopulationBiologyPolymorphism Single NucleotideBASONUCLIN-203 medical and health sciencesBreast cancerGermline mutationSDG 3 - Good Health and Well-beingInternal medicinemedicineBREAST-CANCERHumansGENOME-WIDE ASSOCIATIONeducationAllelesGerm-Line Mutation030304 developmental biologyRetrospective StudiesAgedIDENTIFICATIONRisk FactorOvarian NeoplasmEditorialsCancermedicine.diseaseMinor allele frequencyOvarian cancer
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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

2020

Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function varia…

0301 basic medicineOncologyCancer ResearchCancer cellsmedicine.disease_causeurologic and male genital diseases:Male Urogenital Diseases::Urogenital Neoplasms::Urologic Neoplasms::Kidney Neoplasms::Male Urogenital Diseases::Carcinoma Renal Cell [DISEASES]<i>FH</i> gene0302 clinical medicineMalalties hereditàriesMissense mutationFH geneFH gene hereditary leiomyomatosis leiomyomas missense pathogenic variants renal cell cancerRenal cell cancerMutationKidney diseasesHereditary leiomyomatosis:Otros calificadores::Otros calificadores::/genética [Otros calificadores]:enfermedades urogenitales masculinas::neoplasias urogenitales::neoplasias urológicas::neoplasias renales::enfermedades urogenitales masculinas::carcinoma de células renales [ENFERMEDADES]leiomyomasmissense pathogenic variants renal cell cancerlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensRare diseases:Geographic Locations::Europe::Spain [GEOGRAPHICALS]Oncology030220 oncology & carcinogenesisCohortCèl·lules cancerosesMalalties raresRenal Cell CancersGenetic disordersmedicine.medical_specialtyMissense pathogenic variantsBiología Celularlcsh:RC254-282Article03 medical and health sciencesLeiomyomasInternal medicine:Other subheadings::Other subheadings::/genetics [Other subheadings]medicineRonyons - Malalties - Espanya:localizaciones geográficas::Europa (continente)::España [DENOMINACIONES GEOGRÁFICAS]business.industry:neoplasias::neoplasias por tipo histológico::neoplasias de tejido conjuntivo y de tejidos blandos::neoplasias de tejido muscular::leiomioma::leiomiomatosis [ENFERMEDADES]Retrospective cohort studymedicine.diseaseGenética030104 developmental biologyFumaraseClinical diagnosisHereditary leiomyomatosis and renal cell cancer syndromeMalalties del ronyó:Neoplasms::Neoplasms by Histologic Type::Neoplasms Connective and Soft Tissue::Neoplasms Muscle Tissue::Leiomyoma::Leiomyomatosis [DISEASES]hereditary leiomyomatosisbusiness
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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

2012

Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian …

Oncologyendocrine system diseases[SDV]Life Sciences [q-bio]Càncer d'ovariDCN PAC - Perception action and controlCohort StudiesBreast cancer0302 clinical medicinebrca1brca2Odds RatioGenetics (clinical)ComputingMilieux_MISCELLANEOUSOvarian NeoplasmsGenetics0303 health scienceseducation.field_of_studyBRCA1 ProteinHazard ratioMiddle Aged3. Good healthovarian cancer030220 oncology & carcinogenesisFemaleAdultHeterozygotemedicine.medical_specialtyHereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1]PopulationSingle-nucleotide polymorphismBiologyOvarian Neoplasms - geneticsPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerGermline mutationSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancerInternal medicineGeneticsmedicineHumansGenetic Predisposition to Diseaseddc:610Genetics and epigenetic pathways of disease Translational research [NCMLS 6]educationRetrospective Studies030304 developmental biologyBRCA2 ProteinHereditary cancer and cancer-related syndromes [ONCOL 1]associationRetrospective cohort studysnpOdds ratioBRCA1 Protein - geneticsmedicine.diseaseBRCA2 Protein - geneticsMutationOvarian cancerbrca2; snp; brca1; association; ovarian cancer
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Analysis ofBRCA1andBRCA2genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effec…

2003

We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them males) with breast cancer for germ-line mutations in the BRCA1 and BRCA2 genes, using SSCP, PTT, CSGE, DGGE, and direct sequencing. We identified 60 mutations in BRCA1 and 53 in BRCA2. Of the 53 distinct mutations observed, 11 are novel and 12 have been reported only in Spanish families (41.5%). The prevalence of mutations in this set of families was 26.3%, but the percentage was higher in the families with breast and ovarian cancer (52.1%). The lowest proportion of mutations was found in the site-specific female breast cancer families (15.4%). Of the families with male breast cancer cases, …

GeneticsMutationendocrine system diseasesCancerSingle-strand conformation polymorphismBiologymedicine.diseasemedicine.disease_causeGermline mutationBreast cancerMale breast cancerGeneticsmedicineskin and connective tissue diseasesOvarian cancerGenetics (clinical)Founder effectHuman Mutation
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