| Autor: |
Peterson RD; Department of Pathology, University of South Alabama College of Medicine, Mobile., Funkhouser JD, Tuck-Muller CM, Gatti RA |
| Jazyk: |
angličtina |
| Zdroj: |
Leukemia [Leukemia] 1992; Vol. 6 Suppl 1, pp. 8-13. |
| Abstrakt: |
Ataxia-telangiectasia (A-T) is a syndrome that has an extremely high incidence of cancer. Patients with the disease are homozygous for a mutant gene, the A-T gene, located at 11q23. Of these individuals, 30-40% develop cancer. Of these cancers, 80% are lymphoid. Those heterozygous for the A-T gene also have an increased frequency of cancer, the most notable being the 6.8-fold increase of breast cancer in females carriers. The syndrome is characterized cytogenetically by increased nonrandom chromosome breaks and rearrangements in lymphocytes involving the sites of the immunoglobulin and T-cell receptor genes. Clones of cells having the same rearrangements are often present in the blood of the A-T patients and if the rearrangements involve certain sites, especially a locus within 14q32, the propensity to progress to a malignant transformation is great. Sequencing the A-T gene and ascertaining its function should contribute significantly to our understanding of the molecular mechanisms underlying cancer susceptibility. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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