title: Sister chromatid exchange: A possible approach to characterize familial breast cancer patients.
abstract: Sister chromatid exchange (SCE) frequency is widely used as an indicator of spontaneous chromosome instability. We investigated SCE frequency in the peripheral blood lymphocytes of familial and sporadic breast cancer (BC) patients from the Apulian Caucasian Population. Eighty-one patients were enrolled: 22 with familial history and 59 sporadic patients. Eleven familial patients had an 'increased risk' of BRCA gene mutation (BRCAPro ≥ 10%) and were candidates for BRCA1 and BRCA2 mutation analysis. For these reasons, we stratified the 22 familial BC patients in two group: 'low-risk' (n=11) and 'high-risk' (n=11) patients for BRCA gene mutations. Two of these 11 'high-risk' patients (18%) had pathogenic mutations in the BRCA2 gene. The subjects were not cigarette smokers or alcohol or drug users, and had no genetic disorders or chronic diseases affecting the family. Our results showed a significant increase in SCE frequency in the familial (5.305 ± 1.088/metaphase) (P<0.0001) and the sporadic patients (3.943 ± 0.552) (P<0.0001) compared to the controls (3.197 ± 0.649). We found that the SCE frequency was always significantly higher in familial than in sporadic patients, regardless of their clinicopathological characteristics. Moreover, we observed that the frequency of SCE in BRCA2 mutation carrier patients was higher compared to patients without mutations in BRCA1/2 genes. These findings highlight an intrinsic genomic instability in familial patients, and we suggest that SCE frequency may be used as a biomarker to better characterize familial BC.
authors.affiliation: Functional Biomorphology Laboratory, NCRC, IRCSS Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Ivana
authors.initials: I
authors.lastname: De Pascalis
authors.affiliation: Molecular Genetics Laboratory, NCRC, IRCSS Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Brunella
authors.initials: B
authors.lastname: Pilato
authors.affiliation: Functional Biomorphology Laboratory, NCRC, IRCSS Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Mazzotta
authors.affiliation: Functional Biomorphology Laboratory, NCRC, IRCSS Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Teresa Stefania
authors.initials: TS
authors.lastname: Dell'Endice
authors.affiliation: Pathology Department, NCRC, IRCSS Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Vincenza
authors.initials: V
authors.lastname: Rubini
authors.affiliation: Pathology Department, NCRC, IRCSS Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Simone
authors.affiliation: Experimental Medical Oncology, NCRC, IRCSS Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Paradiso
authors.affiliation: Medical Genetics, University of Ferrara, Ferrara, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Aiello
authors.affiliation: Functional Biomorphology Laboratory, NCRC, IRCSS Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Anita
authors.initials: A
authors.lastname: Mangia
mesh_terms: D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics; D016022:Case-Control Studies; D002875:Chromosomes / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008214:Lymphocytes / Q000166:cytology; D008677:Metaphase; D008875:Middle Aged; D009154:Mutation; D012854:Sister Chromatid Exchange; D012907:Smoking
chemical_list: D014408:Biomarkers, Tumor