Discovering mutations

Published: Friday 15 March 2002

Up to 20 per cent of women with inherited breast cancer have a mutation in the gene that is responsible for repairing damage by radiation therapy. A team, comprising Australian and German researchers, recently found two key mutations in the gene called ATM. "If one copy of the mutated non-functioning gene is inherited, then it results in a reduced dosage of the gene product: a protein involved in the repair of radiation induced damage," said Thilo Drk, from Medical School Hannover, Germany (Journal of the National Cancer Institute, vol 94, p 205).

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