0000000000248235

AUTHOR

Daniele Calistri

showing 4 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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Quantitative fluorescence determination of long-fragment DNA in stool as a marker for the early detection of colorectal cancer

2008

Background: A variety of molecular markers have been evaluated for the development of a non-invasive approach to the diagnosis of colorectal cancer. We aimed to validate the diagnostic accuracy, using the same threshold as in the previous pilot study, of fluorescent long DNA test as a relatively simple and inexpensive tool for colorectal cancer detection.Methods: A case-control study was conducted on 100 healthy subjects and 100 patients at first diagnosis of colorectal cancer. Human long-fragment DNA in stool was quantified by fluorescence primers and a standard curve and expressed in DNA nanograms.Results: We validated the 25-ng value, which emerged as the most accurate cut-off in the pil…

MaleCancer ResearchdiagnosisAdenomatous Polyposis Coli Proteinlong-fragment DNAcolorectal cancercolorectal cancerlcsh:RC254-282Polymerase Chain ReactionPathology and Forensic MedicineFecesFluorescence long DNABiomarkers TumorHumanslcsh:QH573-671stoolEarly Detection of CancerAgedDNA PrimersFluorescent DyesAged 80 and overlcsh:CytologyCell BiologyGeneral MedicineDNAMiddle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensCase-Control StudiesMolecular MedicineFemaleOtherTumor Suppressor Protein p53Colorectal Neoplasms
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