Ataxia-telangiectasia - broad implications for a rare disorder

Article Abstract:

Identification of the gene that causes the rare hereditary disease ataxia-telangiectasia may lead to better understanding and treatment of cancer. Ataxia-telangiectasia causes loss of muscle coordination, immune disorders, instability of chromosomes, and increased risk of lymphoid cancers. The resemblance of the gene which causes the disease to other genes may explain why patients with the disease have abnormal cell growth and a high cancer risk. Carriers of the gene who do not have the disease can now be identified and they too may suffer an increased cancer risk. The possession of this gene may also explain poor reactions in some patients to chemotherapy and help in deciding on their treatment. Identification of the gene may also lead to the development of new chemotherapeutic agents for all cancer patients.

Ataxia telangiectasia

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A growing network of cancer-susceptibility genes

Article Abstract:

Cells that lack the BRCA genes are unable to repair DNA defects. This may explain why mutations of the BRCA genes can cause cancer. Mutations in these genes also cause Fanconi's anemia, which is also caused by unstable chromosomes.

Fanconi's anemia

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