Hypersensitive K303R oestrogen receptor-alpha variant not found in invasive carcinomas.

ABSTRACT:

Introduction

Genetic abnormalities or mutations in premalignant breast lesions may have a role in progression toward malignancy or influence the behaviour of subsequent disease. The A908G (Lys303-->Arg) change in the gene encoding oestrogen receptor-alpha (ER-alpha) creates a hypersensitivity to oestradiol and would have significant consequences if present in breast carcinoma, especially those treated with endocrine therapy. We have therefore examined a panel of endocrine-treated invasive carcinomas for the presence of this mutation.

Methods

Sequencing of control DNA was shown to detect mutation present in as little as 15% of the starting material. Enrichment for the mutation by using MboII restriction digestion allowed the detection of mutant present at 1% or less. We appli

SUBMITTER: Davies MP 

PROVIDER: S-EPMC1064111 | biostudies-literature | 2005

REPOSITORIES: biostudies-literature