Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

ABSTRACT: The human genetic disorder ataxia-telangiectasia (A-T) is characterized by hypersensitivity to ionizing radiation and an elevated risk of malignancy. Epidemiological data support an increased risk for breast and other cancers in A-T heterozygotes. However, screening breast cancer cases for truncating mutations in the ATM (A-T mutated) gene has failed largely to reveal an increased incidence in these patients. It has been hypothesized that ATM missense mutations are implicated in breast cancer, and there is some evidence to support this. The presence of a large variety of rare missense variants in addition to common polymorphisms in ATM makes it difficult to establish such a relationship by association studies. To investigate the functional significance of these changes we have introduced m

SUBMITTER: Scott SP 

PROVIDER: S-EPMC117407 | biostudies-literature | 2002 Jan

REPOSITORIES: biostudies-literature