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Trisomy 8 is the most frequent aberration in the CMPD being detected in ∼20% of all cytogenetic aberrant PV cases and in ∼10% in chromosomally aberrant CIMF mostly as sole abnormality or in combination with +9.
In Chinese never smokers the most frequent aberration was gain of 16p [16p.
Duplication of the BRAF locus has been reported as the most frequent aberration in pediatric LGAs (66% [18]), whereas activating point mutations in BRAF occur less commonly (4 6%) [22], [23].
The most frequent aberration is the unbalanced gain of 17q, often due to translocation of the 17q segment to other chromosomes, combined with retention of two copies of the normal chromosome 17.
In our study, supernumerary centrosomes were the most frequent aberration identified.
Monosomy13/deletion (13q) was the second most frequent aberration detected in 119 patients (30%).
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In highly malignant tumours, the most frequent aberrations are gain of chromosome 7, loss of chromosome 10 and less frequently losses or deletions of chromosomes 9, 22, 6, 13 and 14 or gains of chromosomes 19 and 20.
By assembling the largest collection of ovarian copy number data to date, we have been able to identify the most frequent aberrations and their interactions.
Our main approach to identify cancer-related genes was to filter for the most frequent aberrations but we noted that well characterised cancer driver genes, such as CCNE1 and ERBB2 [7], were not identified since they were amplified in less than 40% of tumours.
Gains of 20q (67%) and losses of 18q (49%) were the most frequent aberrations.
More than 80% of chromosomal aberrations are imbalanced changes, with trisomies of chromosomes 8 and 9 being the most frequent aberrations.
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