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Title: Cytogenetic and molecular genetic analysis of normal, pre-malignant and malignant breast tissue from patients in high-risk families
Author: Jackson, L. A.
Awarding Body: University of Cambridge
Current Institution: University of Cambridge
Date of Award: 2006
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The data presented in this thesis demonstrates that 60.0% of the morphologically normal samples from women at high risk for breast cancer showed genomic copy number aberrations by CGH. There was an average of 1.45 aberrations per sample analysed. These aberrations seemed to be spread throughout the genome, however, there were some regions of interest. These were gains on 1p, 9p, 16p 16q and 19. The presence of these aberrations suggests that morphologically normal epithelial cells analysed from these cases have a degree of genomic instability. The CGH results for HUT presented a complicated profile of copy number loss and gain spread throughout the genome. Of the 23 lesions successfully analysed by CGH, 96.7% had genomic aberrations, an average of 4.35 aberrations per sample analysed. The most common sites of aberration were loss at 1p, 9q, 17p, 17q, 19 and 22q and again at 1q, 2q, 6q, 9p, 13q, 18p and X. The immunohistochemical staining of the HUT provided an insight into whether the lesion was derived from a single clone or was a proliferation of a number of cells. However the overall staining patterns were highly variable between and within cases and no common observations were identified. Although the numbers in this study are small and there is a lack of BRCA1 and BRACA2 mutation status information in all samples, there does seem to be a trend towards the BRCA mutation positive samples being more likely to have genomic aberrations and for these samples to have an increased number of aberrations over samples with unknown mutation status. The wide variety copy number losses and gains in these samples suggest that premalignant lesions can, and do, acquire an array of aberrations and still present as a similar morphological lesions.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available