0000000000603362

AUTHOR

Monica Barile

showing 16 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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Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter stud…

2012

Recently, the number of studies on male breast cancer (MBC) has been increasing. However, as MBC is a rare disease there are difficulties to undertake studies to identify specific MBC subgroups. At present, it is still largely unknown whether BRCA-related breast cancer (BC) in men may display specific characteristics as it is for BRCA-related BC in women. To investigate the clinical–pathologic features of MBC in association with BRCA mutations we established a collaborative Italian Multicenter Study on MBC with the aim to recruit a large series of MBCs. A total of 382 MBCs, including 50 BRCA carriers, were collected from ten Italian Investigation Centres covering the whole country. In MBC p…

AdultMaleOncologyCancer Researchmedicine.medical_specialtyMolecular subtypesSettore MED/06 - Oncologia MedicaDNA Mutational AnalysisGenes BRCA2Genes BRCA1Breast Neoplasms MaleYoung Adultclinical-pathologic features; brca2; brca1; male breast cancer; molecular subtypesBreast cancerInternal medicinemedicineCarcinomaHumansYoung adultFamily historyskin and connective tissue diseasesBRCA1; BRCA2; Clinical-pathologic features; Male breast cancer; Molecular subtypesAgedAged 80 and overGynecologybusiness.industryCarcinoma Ductal BreastMiddle Agedmedicine.diseaseBRCA1BRCA2Male breast cancerItalyOncologyMale breast cancerImmunohistochemistryOvarian cancerbusinessClinical-pathologic featureRare disease
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: Results from a multicenter study in Italy

2015

Increasing evidence indicates that common genetic variants may contribute to the heritable risk of breast cancer (BC). In this study, we investigated whether single nucleotide polymorphisms (SNPs), within the 8q24.21 multi-cancer susceptibility region and within BC-associated loci widespread in the genome, may influence the risk of BC in men, and whether they may be associated with specific clinical-pathologic characteristics of male BC (MBC). In the frame of the ongoing Italian Multicenter Study on MBC, we performed a case-control study on 386 MBC cases, including 50 BRCA1/2 mutation carriers, and 1105 healthy male controls, including 197 unaffected BRCA1/2 mutation carriers. All 1491 subj…

MaleCancer ResearchPredictive Value of Test8q24.21; BRCA1/2; Clinical-pathologic characteristics; Low-penetrance BC alleles; Male breast cancer; SNPs; BRCA1 Protein; BRCA2 Protein; Biomarkers Tumor; Breast Neoplasms Male; Case-Control Studies; Chi-Square Distribution; Gene Frequency; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Italy; Linear Models; Logistic Models; Male; Multivariate Analysis; Mutation; Odds Ratio; Phenotype; Predictive Value of Tests; Risk Factors; Chromosomes Human Pair 11; Chromosomes Human Pair 14; Chromosomes Human Pair 8; Chromosomes Human Pair 9; Polymorphism Single Nucleotide; Oncology; Cancer ResearchGene FrequencyRisk FactorsGenotypeOdds RatioMedicineskin and connective tissue diseasesMultivariate AnalysiSettore MED/36 - DIAGNOSTICA PER IMMAGINI E RADIOTERAPIAGeneticsClinical-pathologic characteristicsBRCA1 ProteinClinical-pathologic characteristicHomozygoteLow-penetrance BC allelesPhenotype8q24.21OncologyItalyMale breast cancer8q24.21; BRCA1/2; Clinical-pathologic characteristics; Low-penetrance BC alleles; Male breast cancer; SNPs; Cancer Research; OncologyLinear ModelCase-Control StudieChromosomes Human Pair 9HumanChromosomes Human Pair 8SNPsHeterozygoteLogistic ModelSNPSingle-nucleotide polymorphismPolymorphism Single NucleotideBreast Neoplasms MaleBreast cancerPredictive Value of TestsBRCA1/2Biomarkers TumorSNPHumansGenetic Predisposition to DiseaseAllele frequencyBRCA2 ProteinChromosomes Human Pair 14Chi-Square Distributionbusiness.industryRisk FactorChromosomes Human Pair 11Case-control studyOdds ratiomedicine.diseaseMale breast cancerLogistic ModelsCase-Control StudiesMultivariate AnalysisMutationLinear ModelsbusinessLow-penetrance BC allele
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Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

endocrine system diseasesskin and connective tissue diseases3. Good health
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Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

endocrine system diseasesskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
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Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

endocrine system diseasespolycyclic compoundsskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
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Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

3. Good health
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Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

3. Good health
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Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

polycyclic compoundsbacteriabiochemical phenomena metabolism and nutritionbacterial infections and mycosesskin and connective tissue diseases3. Good health
researchProduct

Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

3. Good health
researchProduct

Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

3. Good health
researchProduct

Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

endocrine system diseasesskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

endocrine system diseasespolycyclic compoundsskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

endocrine system diseasesskin and connective tissue diseases3. Good health
researchProduct

Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

polycyclic compoundsbacteriabiochemical phenomena metabolism and nutritionbacterial infections and mycosesskin and connective tissue diseases3. Good health
researchProduct