0000000001063271

AUTHOR

Virginia Valentini

showing 6 related works from this author

Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy

2018

Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk. Overall, these genes are functionally linked to DNA repair pathways, highlighting the central role of genome maintenance in MBC genetic predisposition. MUTYH is a DNA repair gene whose biallelic germline variants cause MUTYH-associated polyposis (MAP) syndrome. Monoallelic MUTYH variants have been reported in families with both colorectal and breast cancer and there is some evidence on increased breast cancer risk in women with monoallelic variants. In this study, we aimed to investigate whether MUTYH germline v…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyMUTYHBRCA1/2; MUTYH; MUTYH-associated polyposis (MAP) syndrome; NGS; breast cancer risk; genetic susceptibility; male breast cancerPALB2male breast cancerlcsh:RC254-28203 medical and health sciencesbreast cancer risk0302 clinical medicineBreast cancerMUTYHBRCA1/2Internal medicinemedicineGenetic predispositionskin and connective tissue diseasesCHEK2MUTYH-associated polyposis (MAP) syndromeOriginal Researchbusiness.industryCancermedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPenetrancemale breast cancer; genetic susceptibility; BRCA1/2; MUTYH; NGS; MUTYH-associated polyposis (MAP) syndrome; breast cancer risk030104 developmental biologyOncology030220 oncology & carcinogenesisMale breast cancerNGSbusinessgenetic susceptibility
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A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

2018

Abstract Introduction Breast cancer (BC) in men is a rare disease, whose etiology appears to be associated with genetic factors. Inherited mutations in BRCA1/2 genes account for about 10–15% of all cases. FANCM, functionally linked to BRCA1/2, has been suggested as a novel BC susceptibility gene. Our aim was to test if FANCM germline mutations could further explain male BC (MBC) susceptibility. Methods We screened the entire coding region of FANCM in 286 MBCs by a multi-gene panel analysis, and compared these data with available whole exome sequencing data from 415 men used as population controls. Moreover, we genotyped the two most frequent FANCM mutations (c.5101C>T and c.5791C>T) in 506 …

0301 basic medicineMaleMutation rateSettore MED/06 - Oncologia MedicaDNA Helicasemedicine.disease_causeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; Adult; Aged; Aged 80 and over; Biomarkers Tumor; Breast Neoplasms Male; Case-Control Studies; DNA Helicases; Genetic Predisposition to Disease; Genotype; Germ-Line Mutation; Humans; Italy; Male; Middle Aged; Risk Factors; Whole Genome Sequencing; Young Adult; Surgery0302 clinical medicineFANCMRisk Factorshemic and lymphatic diseasesGermline mutationGenotypeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; SurgeryFANCMMutation frequencyGeneticsAged 80 and overeducation.field_of_studyMutationGeneral MedicineMiddle AgedItaly030220 oncology & carcinogenesisMale breast cancerCase-Control StudieHumanAdultcongenital hereditary and neonatal diseases and abnormalitiesGenotypePopulationBreast Neoplasms Male03 medical and health sciencesYoung AdultGermline mutationBRCA1/2medicineBiomarkers TumorHumansGenetic Predisposition to DiseaseeducationGermline mutationsGerm-Line MutationAgedBreast cancer susceptibilityWhole Genome Sequencingbusiness.industryRisk FactorDNA Helicasesnutritional and metabolic diseasesmedicine.diseaseMale breast cancer030104 developmental biologyCase-Control StudiesSurgerybusiness
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Insight into genetic susceptibility to male breast cancer by multigene panel testing: results from a multicenter study in Italy

2019

Breast cancer (BC) in men is rare and genetic predisposition is likely to play a relevant role in its etiology. Inherited mutations in BRCA1/2 account for about 13% of all cases and additional genes that may contribute to the missing heritability need to be investigated. In our study, a well-characterized series of 523 male BC (MBC) patients from the Italian multicenter study on MBC, enriched for non-BRCA1/2 MBC cases, was screened by a multigene custom panel of 50 cancer-associated genes. The main clinical-pathologic characteristics of MBC in pathogenic variant carriers and non-carriers were also compared. BRCA1/2 pathogenic variants were detected in twenty patients, thus, a total of 503 n…

OncologyAdultMaleCancer Researchmedicine.medical_specialtyPALB2Adenomatous Polyposis Coli Proteinmale breast cancerGene mutationBreast Neoplasms MaleDNA GlycosylasesBRCA1/2; cancer susceptibility genes; germline mutations; male breast cancer; multigene panel testing03 medical and health sciencesYoung Adult0302 clinical medicinemultigene panel testingMUTYHMissing heritability problemBRCA1/2Internal medicinemedicineGenetic predispositionHumansGenetic Predisposition to Diseasecancer susceptibility genecancer susceptibility genesskin and connective tissue diseasesCHEK2Genetic Association StudiesAgedAged 80 and overbusiness.industryCase-control studySequence Analysis DNAMiddle Agedmedicine.diseaseCheckpoint Kinase 2germline mutationOncologyItaly030220 oncology & carcinogenesisMale breast cancerCase-Control StudiesMutationgermline mutationsbusinessFanconi Anemia Complementation Group N Protein
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Whole-exome sequencing and targeted gene sequencing provide insights into the role ofPALB2as a male breast cancer susceptibility gene

2016

BACKGROUND Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation–negative MBC cases. METHODS Germ-line DNA of 1 male and 2 female BRCA1/2 mutation–negative breast cancer (BC) cases from a pedigree showing a first-degree family history of MBC was analyzed with WES. Targeted gene sequencing for the validation of WES results w…

0301 basic medicineCancer genome sequencingProbandGeneticsCancer ResearchPALB2Nonsense mutationCancerBiologymedicine.disease03 medical and health sciences030104 developmental biology0302 clinical medicineBreast cancerOncology030220 oncology & carcinogenesisMale breast cancermedicineskin and connective tissue diseasesExome sequencingCancer
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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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Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

2019

Breast cancer in men is a rare and still poorly characterized disease. Inherited mutations in BRCA1, BRCA2 and PALB2 genes, as well as common polymorphisms, play a role in male breast cancer genetic predisposition. Male breast cancer is considered a hormone-dependent tumor specifically related to hyperestrogenism. Polymorphisms in genes involved in estrogen biosynthesis and metabolism pathways, such as CYP17A1 and CYP1B1, have been associated with breast cancer risk. Here, we aimed to investigate the role of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk. A series of 597 male breast cancer cases and 1022 male controls, recruited within the Italian Multicenter Study on male brea…

Oncologymedicine.medical_specialtyEndocrinology Diabetes and MetabolismPALB2Diseasemale breast cancerHyperestrogenismlcsh:Diseases of the endocrine glands. Clinical endocrinology03 medical and health sciences0302 clinical medicineEndocrinologyBreast cancerInternal medicineGenotypeCYP17A1Internal MedicineGenetic predispositionMedicine030212 general & internal medicineskin and connective tissue diseasesEstrogen Receptor Statusmale breast cancer; CYP17A1; CYP1B1; polymorphisms; male breast cancer risklcsh:RC648-665business.industryResearchmedicine.diseasemale breast cancer risk030220 oncology & carcinogenesisMale breast cancerCYP1B1medicine.symptombusinesspolymorphismsEndocrine Connections
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