0000000001251775

AUTHOR

M. Barile

showing 4 related works from this author

Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy

2013

It is well-known that male breast cancer (MBC) susceptibility is mainly due to high-penetrance BRCA1/2 mutations. Here, we investigated whether common low-penetrance breast cancer (BC) susceptibility alleles may influence MBC risk in Italian population and whether variant alleles may be associated with specific clinicopathological features of MBCs. In the frame of the Italian Multicenter Study on MBC, we genotyped 413 MBCs and 745 age-matched male controls at 9 SNPs annotating known BC susceptibility loci. By multivariate logistic regression models, we found a significant increased MBC risk for 3 SNPs, in particular, with codominant models, for rs2046210/ESR1 (OR = 1.71; 95 % CI: 1.43–2.05;…

OncologyAdultMaleCancer Researchmedicine.medical_specialtyMultivariate analysisSettore MED/06 - Oncologia MedicaClinicopathological characteristicBRCA1/2; Clinicopathological characteristics; ER/PR status; Low-penetrance breast cancer alleles; Male breast cancer; SNPsSingle-nucleotide polymorphismPolymorphism Single NucleotideER/PR statuBreast Neoplasms MaleBreast cancerBRCA1/2Internal medicineGenotypemedicineHumansGenetic Predisposition to DiseaseAlleleReceptor Fibroblast Growth Factor Type 2Low-penetrance breast cancer alleleAllelesAgedAged 80 and overbusiness.industryEstrogen Receptor alphaHigh Mobility Group Proteinsclinicopathological characteristicsMiddle Agedmedicine.diseasePenetranceMale breast cancerer/pr statusOncologyTOX3ItalyReceptors EstrogenMale breast cancerCase-Control StudiesMultivariate AnalysisTrans-Activatorslow-penetrance breast cancer allelesbusinessApoptosis Regulatory ProteinsReceptors Progesteroneclinicopathological characteristics; er/pr status; male breast cancer; brca1/2; snps; low-penetrance breast cancer allelesSNPs
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Association of SULT1A1 Arg213His polymorphism with male breast cancer risk: results from a multicenter study in Italy

2014

Male breast cancer (MBC) is rare and poorly understood. Like female breast cancer (FBC), MBCs are highly sensitive to hormonal changes, and hyperestrogenism, specifically, represents a major risk factor for MBC. MBC is considered similar to late-onset, post-menopausal estrogen/progesteron receptors positive FBC (ER+/PR+). Sulfotransferase 1A1 (SULT1A1) is an enzyme involved in the metabolism of estrogens. Recently, SULT1A1 common functional polymorphism Arg213His (638G>A) variant has been found to be associated with increased breast cancer (BC) risk, particularly in post-menopausal women. For this reason, we decided to explore whether SULT1A1 Arg213His could exert an effect on MBC developme…

OncologyAsian Continental Ancestry GroupMalemedicine.medical_specialtyCancer ResearchGenotypemedicine.drug_classReceptor ErbB-2Settore MED/06 - Oncologia MedicaEstrogen receptorGenetic Association StudieBiologyHyperestrogenismPolymorphism Single NucleotideBreast Neoplasms MaleBreast cancerGene FrequencyInternal medicineSulfotransferase 1A1 (SULT1A1)GenotypeGenetic variationmedicineEstrogen receptorGenetic Predisposition to DiseaseAlleleskin and connective tissue diseasesRisk FactorMiddle Agedmedicine.diseaseEstrogenArylsulfotransferaseMale breast cancerGene Expression Regulation NeoplasticEndocrinologySULT1A1 Arg213His polymorphismItalyOncologyEstrogenMale breast cancermedicine.symptomHuman
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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2…

2012

Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers. Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 × 10−5), but increased with age at diagnosis among BRCA2, carriers (P-trend = 6.8 × 10−6). The proportion of triple-negative tumors decreased with age at diagnos…

OncologyPathologyendocrine system diseasesEpidemiologyGenes BRCA2Genes BRCA1Estrogen receptorGene mutation0302 clinical medicineCancer screeningMedicineskin and connective tissue diseasesEstrogen Receptor StatusOvarian Neoplasms0303 health sciencesMiddle Agedfemale genital diseases and pregnancy complications3. Good healthSerous fluidtriple-negative tumorsOncology030220 oncology & carcinogenesisFemaleestrogen receptorAdultmedicine.medical_specialtyBRCA1; BRCA2; breast cancer; estrogen receptor; triple-negative tumorsHereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1]Breast NeoplasmsArticle03 medical and health sciencesbreast cancerBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Internal medicineHumansGenetic Predisposition to DiseaseGenetics and epigenetic pathways of disease Translational research [NCMLS 6]Germ-Line MutationAged030304 developmental biologyHereditary cancer and cancer-related syndromes [ONCOL 1]business.industryCancerBRCA1medicine.diseaseBRCA2Neoplasm GradingbusinessOvarian cancer
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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

2010

Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carrie…

OncologyCancer Researchendocrine system diseasesVesicular Transport ProteinsGene mutation0302 clinical medicineRisk FactorsGenotypeskin and connective tissue diseasesAged 80 and over0303 health sciencesBRCA1 ProteinHigh Mobility Group ProteinsMiddle Aged3. Good healthOncology030220 oncology & carcinogenesisFemaleBreast diseaseReceptors ProgesteroneAdultHeterozygotemedicine.medical_specialtyGenotypeBreast NeoplasmsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideRisk AssessmentArticle03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingInternal medicinemedicineHumansGenetic Predisposition to DiseaseAllelesAged030304 developmental biologyBRCA2 ProteinHereditary cancer and cancer-related syndromes [ONCOL 1]Sodium-Bicarbonate SymportersHaplotypeCancergenome-wide association estrogen-receptor loci variantsmedicine.diseaseSurvival AnalysisTOX3MutationTrans-ActivatorsCancer researchApoptosis Regulatory Proteins
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