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Shared and unique genomic structural variants of different histological components within testicular germ cell tumours identified with mate pair sequencing.


ABSTRACT: Post-pubertal testicular germ-cell tumours (TGCTs) can present with a variety of distinct histologies which are nevertheless lineage related and often co-occurring. The exact lineage relationships and developmental pathways leading to the different histologies is debated. In order to investigate the relationship of histologic populations, mate-pair sequencing (MPseq) and exome sequencing (ExomeSeq) were conducted on different histological populations within the same tumour. Ten TGCTs with 1-3 histologic types/tumour were sequenced. Junctions of somatic chromosomal rearrangements were identified on a per genome basis, with germ cell neoplasia in situ possessing the least (median 1, range 0-4) and embryonal carcinoma the most (median 8.5, range 6-12). Copy number variation revealed gains and

SUBMITTER: Bryce AH 

PROVIDER: S-EPMC6400951 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature