Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

ABSTRACT:

Background

Severe early and late radiation reaction to radiotherapy is extremely rare in breast cancer patients. Such a reaction prompted an investigation into a 44-year-old mother (patient A-T213).

Methods

A neurological examination was performed and blood lymphocytes and skin fibroblasts were assessed for radiosensitivity chromosomally and by colony-forming assay. The ATM gene was sequenced and ATM mutations modelled by site-directed mutagenesis. The ATM kinase activity was also assessed.

Results

Patient A-T213 was normally ambulant with no ataxia and minimal other neurological features. T lymphocytes and skin fibroblasts were unusually radiosensitive, although less sensitive than in classical ataxia telangiectasia (A-T). A lymphoblastoid cell line and skin fibrobla

SUBMITTER: Byrd PJ 

PROVIDER: S-EPMC3261689 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature