Microsatellite instability and aberrant V(D)J recombination in ataxia telangiectasia affected family members
Date
1997
Authors
Steele, Patricia Porter
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Abstract
Ataxia Telangiectasia (AT) is an autosomal recessive disorder characterized by predisposition to cancers. AT heterozygotes, at increased risk for breast cancer, may comprise 6-8% of breast cancer patients. We investigated the use of aberrant V(D)J recombination to discriminate AT carrier status, and microsatellite instability as an indicator of genomic instability within the AT cohort, using PCR-based methodologies and genomic DNA We report a wide variation in the frequency of aberrant hybrid T-cell receptors (TCR) within our study populations, a control group, AT homozygotes, heterozygotes, and relatives, accounting for no significant differences between our cohorts. Additionally, no microsatellite instability was observed as a result of germline alterations within the infonnative AT individuals. In conclusion, the frequency of aberrant hybrid TCR is not a useful indicator to discriminate AT heterozygous individuals. Due to the size of our study population, we do not rule out potential genomic instability within AT homozygotes and heterozygotes.