0000000000771781

AUTHOR

Veronica Graziano

showing 2 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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SULT1A1 gene deletion in BRCA2-associated male breast cancer: a link between genes and environmental exposures?

2013

SULT1A1, a member of sulfotransferase superfamily, is a drug and hormone metabolizing enzyme involved in the metabolism of a variety of potential mammary carcinogens of endogenous and exogenous origin. Interestingly, the metabolic activity of SULT1A1 can be affected by varia- tions in gene copy number. Male Breast Cancer (MBC) is a rare disease and less investigated disease compared to female BC (FBC). As in FBC, the concurrent effects of genetic risk factors, particularly BRCA2 mutations, increased exposure to estrogens and environmental carcinogens play a relevant role in MBC. By quantitative real-time PCR with TaqMan probes, we investigated the presence of SULT1A1 gene copy number variat…

copy number variations (CNVs)MaleSettore MED/06 - Oncologia MedicaShort Communicationmale breast cancerDiseaseBiologyBreast Neoplasms Malecopy number variations (cnvs); brca2; sult1a1; male breast cancerPathogenesisSULT1A1 GeneSULT1A1 copy number variations (CNVs) BRCA2 male breast cancermedicineHumansGenetic Predisposition to DiseaseCopy-number variationskin and connective tissue diseasesGeneCarcinogenBRCA2 ProteinGeneticsEnvironmental ExposureCell BiologyEnvironmental exposuremedicine.diseaseBRCA2ArylsulfotransferaseMale breast cancerSULT1A1Molecular MedicineFemaleGene Deletion
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