Analysis of the PvuII restriction fragment-length polymorphism and exon structure of the estrogen receptor gene in breast cancer and peripheral blood.

摘要: The presence of estrogen receptor (ER) is a well-known predictor clinical outcome in human breast cancer. We examined the ER gene 26 primary cancers (14 ER-positive, 12 ER-negative) to determine if alterations are associated with ER-negative status. In tumor biopsies and peripheral blood DNA obtained from same patients we analyzed exon structure using polymerase chain reaction amplification, restriction endonuclease digestion, agarose gel electrophoresis. All samples, regardless status, showed complete set eight exons normal sizes, ruling out deletions or rearrangements excess +/- 20 nucleotides. Previous reports indicate that two-allele PvuII polymorphism could be expression cancer (Hill et al., Cancer Res., 49: 145-148, 1989) as well patient age at time diagnosis (Parl Breast Res. Treat., 14: 57-64, 1989). localized intron 1, 0.4 kilobase upstream 2. Sequence analysis result point mutation (T----C) fifth position site (CATCTG). determined fragment-length genotype 257 140 samples women without results not content diagnosis.