One of the main genetic abnormalities associated with breast carcinogenesis is the loss of genetic material from chromosome arm 16q. Different groups have identified two regions (16q22.1 and 16q24-ter) that are frequently deleted in primary tumors, suggesting the presence of tumor suppressor genes i
THE FREQUENCY AND MECHANISM OF LOSS OF HETEROZYGOSITY ON CHROMOSOME 11q IN BREAST CANCER
β Scribed by TOMLINSON, I. P. M.; NICOLAI, H.; SOLOMON, E.; BODMER, W. F.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 586 KB
- Volume
- 180
- Category
- Article
- ISSN
- 0022-3417
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β¦ Synopsis
Loss of heterozygosity (LOH, allele loss) occurs frequently on the long arm of chromosome 11 in breast cancer. Seventy-one paired tumourlnormal DNA samples from breast cancer patients under 50 years old were studied for allele loss at four microsatellite loci on llq: DlIS29 (11q23.3), NCAM(llq22923), DllS968 (llqtel), and DZZS1313 (llqcen). The maximum frequency of LOH (-35 per cent) was found a t the DIlS29 and NCAM loci. This result is consistent with previous studies and the frequency of allele loss is moderate to high compared with the usual baseline of 0-20 per cent. In most of the cases studied, LOH on chromosome l l q could be accounted for by one of two mechanisms. Either chromosomal non-disjunction had occurred, or sequences stretching from the telomere a t least as far as NCAM had undergone deletion or mitotic recombination. These results suggest that a putative tumour suppressor gene is most likely to exist near llq22423. There was a very low frequency of microsatellite instability in the tumours. An association was found between lack of progesterone receptor (PgR) expression and LOH at NCAM, suggesting that deletion of sequences on l l q may prevent high levels of PgR expression in some cases.
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