title: HER2 polymorphisms and breast cancer in Tunisian women.
abstract: HER2 has been thought to play a critical role in both breast cancer development and progression. Any functional polymorphisms can potentially affect breast cancer risk as well as cancer phenotype and outcome. In our study, we analyzed three polymorphisms in the HER2 gene: the single-nucleotide polymorphism (SNP) HER2 Ile(655)Val as well as another SNP (rs903506) close to it and a new screened dinucleotide repeat H(AC)I4 in intron 4, in a sample of 148 cases and 290 controls from the Tunisian population and investigated their association with breast cancer risk. For the HER2 Ile(655)Val, we found similar allele frequencies between cases and controls (frequency of I allele was 0.92 and 0.91, respectively). The same was observed for the noncoding SNP (rs903506). These two SNPs also showed no association with any clinical parameters, except the association of HER2 Ile(655)Val with tumor size (p = 0.002). But, a significant association was found between the short tandem repeat (STR) [H(AC)I4] and breast cancer risk at both genotypic and allelic levels (p = 0.0004 and p = 0.0001, respectively). Multivariate analysis with binary logistic regression of disease status on genotypes of the three polymorphisms confirmed the association of STR with breast cancer risk (p = 0.016). Therefore, this STR seems to be a promising biomarker in breast cancer and deserves further investigation.
authors.affiliation: Bioinformatics and Signalling Group, Centre de Biotechnologie de Sfax, Sfax, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Kallel
authors.forename: Najla
authors.initials: N
authors.lastname: Kharrat
authors.forename: Suad
authors.initials: S
authors.lastname: Al-fadhly
authors.forename: Maha
authors.initials: M
authors.lastname: Rebai
authors.forename: Abdelmajid
authors.initials: A
authors.lastname: Khabir
authors.forename: Tahia Sallemi
authors.initials: TS
authors.lastname: Boudawara
authors.forename: Ahmed
authors.initials: A
authors.lastname: Rebaï
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D018900:Dinucleotide Repeats; D005260:Female; D005787:Gene Frequency; D018734:Genes, erbB-2; D006801:Humans; D007438:Introns; D008875:Middle Aged; D015999:Multivariate Analysis; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D014416:Tunisia; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; D017931:DNA Primers