Search results for "Fanconi Anemia Complementation Group N Protein"

showing 3 items of 3 documents

Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene

2016

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.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 was performed for 48 …

MaleCancer ResearchDNA Mutational AnalysisBreast NeoplasmsBreast Neoplasms MaleDNA Mutational AnalysiGenetic susceptibility; Male breast cancer; N-acetyltransferase 1 (NAT1); Partner and localizer of BRCA2 (PALB2); Whole-exome sequencing; Oncology; Cancer ResearchGenetic susceptibilityHumansExomeGenetic Predisposition to DiseaseN-acetyltransferase 1 (NAT1)genetic susceptibility; male breast cancer; N-acetyltransferase 1 (NAT1); partner and localizer of BRCA2 (PALB2); whole-exome sequencing; BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Breast Neoplasms Male; Case-Control Studies; DNA Mutational Analysis; Exome; Fanconi Anemia Complementation Group N Protein; Female; Genetic Predisposition to Disease; Humans; Italy; Male; Mutation; Nuclear Proteins; Pedigree; Tumor Suppressor Proteins; Oncology; Cancer ResearchNuclear ProteinBRCA2 ProteinTumor Suppressor ProteinBRCA1 ProteinTumor Suppressor ProteinsPartner and localizer of BRCA2 (PALB2)Nuclear ProteinsPedigreeMale breast cancerItalyOncologyCase-Control StudiesWhole-exome sequencingMutationFemaleCase-Control StudieFanconi Anemia Complementation Group N ProteinBreast NeoplasmHuman
researchProduct

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

2012

Pancreatic adenocarcinoma (PC) is the third most common cancer associated with BRCA mutations. Most notice has been given to BRCA2, while the association between BRCA1 and PC is less widely reported. Recently, PALB2 has been implicated in both PC and breast cancer (BC) susceptibility. We selected 29 Italian PC patients from a case-control study of PC according to their personal and family history of both PC and breast/ovarian cancer (BC/OC) and tested them for presence of germline mutations in BRCA1, BRCA2 and PALB2. We identified no germline mutations or deletions in PALB2, but detected 7 BRCA mutations (4 in BRCA1 and 3 in BRCA2). These findings suggest that PALB2 does not play a major ro…

MaleCancer Researchendocrine system diseasesSettore MED/06 - Oncologia MedicaBRCAGermlineGermline mutationHereditary breast ovarian cancer syndrome (HBOC)skin and connective tissue diseasesGenetics (clinical)Nuclear ProteinOvarian NeoplasmsAged 80 and overGeneticseducation.field_of_studyBRCA1 ProteinPancreatic NeoplasmNuclear ProteinsMiddle Agedfemale genital diseases and pregnancy complicationsPedigreeItalyOncologyAdenocarcinomaFemaleCase-Control StudieFanconi Anemia Complementation Group N ProteinPancreatic cancer susceptibility; BRCA; PALB2; Hereditary breast ovarian cancer syndrome (HBOC); Germline mutationBreast NeoplasmHumanAdultPALB2PopulationBreast NeoplasmsAdenocarcinomaGermline mutationBreast cancerGeneticPancreatic cancerGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationGerm-Line MutationAgedBRCA2 ProteinTumor Suppressor Proteinbusiness.industryTumor Suppressor ProteinsOvarian NeoplasmCancermedicine.diseasePancreatic cancer susceptibilityPancreatic NeoplasmsCase-Control StudiesPALB2businessGene DeletionFamilial Cancer
researchProduct

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
researchProduct