Sentence examples for recurrent alteration of from inspiring English sources

On the contrary, the mutation c.5763dupT, the only recurrent alteration of the BRCA2 gene identified in our study, was not found in Moravia.

The novel c.5763dupT mutation, which appeared in two unrelated families, was the only recurrent alteration of the BRCA2 gene identified in this study.

The c.5763dupT mutation, which causes a premature termination of translation at codon 1923, appeared in two families and was the only recurrent alteration of the BRCA2 gene identified in this study.

Posterior uveal melanomas have recurrent alterations of chromosomes 1, 3, 6 and 8.

Recent landmark next-generation sequencing campaigns of large cancer patient cohorts repeatedly revealed recurrent alterations of genes involved in epigenetic mechanisms [ 20, 23, 24, 59– 61].

As shown in Table 4, deletion in the locus encompassing SEC11L3 (18q21.32) was observed to be the most recurrent alteration (13 out of 19 samples; 68%).

This recurrent alteration event has been validated using fluorescence in situ hybridization in an independent set of OPLs.

Alternatively, these differences could be due to the presence of some acquired recurrent genetic alteration of the specific lymphoma type, for example, miRNAs contained in frequently lost chromosomal regions, such as 13q14 deletion in CLL or 7q21 lost in SMZL.

We have focused this section on the detection of recurrent alterations since it is the aim of many CN analysis.

Heterogeneous copy number profiles with a high frequency of recurrent regions of amplification and frequent combinations of recurrent alterations (such as chromosome 8p loss, 8q gain, 16q loss, 17q and/or 20q amplifications) observed in the IMPC group prompted us to search for genomic subsets.

The boundaries of amplicons/deletions did not correspond to known germline CNVs (reported in the Database of Genomic Variants), and, for the subset of recurrent alterations, finding distinct boundaries in different cell lines was more consistent with somatic alteration.