title: Analysis of estrogen receptor polymorphism in codon 325 by PCR-SSCP in breast cancer: association with lymph node metastasis.
abstract: Breast cancer is the most frequent neoplasm in women. Expression of the estrogen receptor (ER) has a key role in breast cancer; the ER gene is located at chromosome 6q24-q27 and is made up of 8 exons with a total of 140 kb. The polymorphism in codon 325 of exon 4 (ER325) is a transition CCC-->CCG. The objective of this study is to analyze the frequency of this polymorphism in breast cancer using the polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) technology. DNA was extracted from tumor cells of 70 breast cancer patients and from the peripheral blood of 69 individuals without any known pathology (control group). Amplification products of the ER gene were analyzed by SSCP. In breast cancer patients the ER325 polymorphism was detected in 42.8% of the cases. In contrast, in the control group, the frequency of the same polymorphism was 24.6. Statistical comparison of the frequency distributions revealed that they are significantly different (p = 0.023). There was also an association between ER325 polymorphism and the absence of lymph node metastases (p = 0.038). Our data suggest that there is a relationship between the ER325 polymorphism and susceptibility to breast cancer (OR = 2.3; 1.10 < OR < 5.1) and that it can also be related with the metastasization process.
authors.affiliation: Oncologia Molecular-Serv. de Anat. Patológica, Centro Regional Norte, Instituto Português de Oncologia Francisco Gentil, Porto, Portugal.
authors.forename: André
authors.initials: A
authors.lastname: Vasconcelos
authors.forename: Rui
authors.initials: R
authors.lastname: Medeiros
authors.forename: Isabel
authors.initials: I
authors.lastname: Veiga
authors.forename: Deolinda
authors.initials: D
authors.lastname: Pereira
authors.forename: Susana
authors.initials: S
authors.lastname: Carrilho
authors.forename: Carlos
authors.initials: C
authors.lastname: Palmeira
authors.forename: Cândida
authors.initials: C
authors.lastname: Azevedo
authors.forename: Carlos S
authors.initials: CS
authors.lastname: Lopes
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology*; D003062:Codon / Q000235:genetics; D017931:DNA Primers; D005260:Female; D006801:Humans; D008207:Lymphatic Metastasis / Q000235:genetics; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011174:Portugal; D011960:Receptors, Estrogen / Q000235:genetics*; D012307:Risk Factors; D044465:White People / Q000235:genetics*
chemical_list: D003062:Codon; D017931:DNA Primers; D011960:Receptors, Estrogen