0000000000700165

AUTHOR

Mario Falchetti

showing 6 related works from this author

Patterns of genomic instability in gastric cancer: clinical implications and perspectives

2007

In gastric cancer (GC) the loss of genomic stability represents a key molecular step that occurs early in the carcinogenesis process and creates a permissive environment for the accumulation of genetic and epigenetic alterations in tumor suppressor genes and oncogenes. It is widely accepted that GC can follow at least two major genomic instability pathways, microsatellite instability (MSI) and chromosome instability (CIN). MSI is responsible for a well-defined subset of GCs. CIN represents a more common pathway comprising heterogeneous subsets of GC. In addition to MSI and CIN, the CpG islands methylator phenotype (CIMP) plays an important role in gastric carcinogenesis. CIMP may lead to th…

Genome instabilitybusiness.industrygastric cancer genomic instability microsatellite instability (MSI) chromosomal instability (CIN) CpG island methylator phenotype (CIMP) clinical implicationsMicrosatellite instabilityHematologyDNA Methylationmedicine.diseasemedicine.disease_causedigestive system diseasesDNA demethylationOncologyCpG siteStomach NeoplasmsChromosomal InstabilityChromosome instabilityDNA methylationmedicineCancer researchHumansCpG IslandsMicrosatellite InstabilityEpigeneticsbusinessCarcinogenesisneoplasms
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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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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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BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases

2008

Male breast cancer (MBC) is a rare and poorly known disease. Germ-line mutations of BRCA2 and, to lesser extent, BRCA1 genes are the highest risk factors associated with MBC. Interestingly, BRCA2 germ-line rearrangements have been described in high-risk breast/ovarian cancer families which included at least one MBC case. Germ-line mutations of CHEK2 gene have been also implicated in inherited MBC predisposition. The CHEK2 1100delC mutation has been shown to increase the risk of breast cancer in men lacking BRCA1/BRCA2 mutations. Intriguingly, two other CHEK2 mutations (IVS2+1G>A and I157T) and a CHEK2 large genomic deletion (del9-10) have been associated with an elevated risk for prostate c…

AdultMaleCancer Researchendocrine system diseasesGenes BRCA2Genes BRCA1male breast cancerProtein Serine-Threonine KinasesBiologychek2medicine.disease_causeBreast Neoplasms Malebrca1Breast cancerbrca2medicineHumansBRCA1/BRCA2germ-line mutationsMultiplex ligation-dependent probe amplificationmlpaskin and connective tissue diseasesneoplasmsCHEK2Germ-Line MutationGene RearrangementMutationCancerGene rearrangementmedicine.diseaseCheckpoint Kinase 2Oncologylarge genomic rearrangementsMale breast cancerCancer researchbrca1; brca2; chek2; germ-line mutations; large genomic rearrangements; male breast cancer; mlpaBreast diseaseBreast Cancer Research and Treatment
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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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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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