Abstract:
BACKGROUND:Approximately 90% of colorectal cancer (CRC) deaths are caused by tumors ability to migrate into the adjacent tissues and metastase into distant organs. More than 40 genes have been causally linked to the development of CRC but no mutations have been associated with metastasis yet. To identify molecular basis of CRC metastasis we performed whole-exome and genome-scale transcriptome sequencing of 7 liver metastases along with their matched primary tumours and normal tissue. Multiple, spatially separated fragments of primary tumours were analyzed in each case. Uniformly malignant tissue specimen were selected with macrodissection, for three samples followed with laser microdissection. RESULTS:> 100 sequencing coverage allowed for detection of genetic alterations in subpopulation of tumour cells. Mutations in KRAS, APC, POLE, and PTPRT, previously associated with CRC development, were detected in most patients. Several new associations were identified, including PLXND1, CELSR3, BAHD1 and PNPLA6. CONCLUSIONS:We confirm the essential role of inflammation in CRC progression but question the mechanism of matrix metalloproteinases activation described in other work. Comprehensive sequencing data made it possible to associate genome-scale mutation distribution with gene expression patterns. To our knowledge, this is the first work to report such link in CRC metastasis context.
journal_name
BMC Genetjournal_title
BMC geneticsauthors
Goryca K,Kulecka M,Paziewska A,Dabrowska M,Grzelak M,Skrzypczak M,Ginalski K,Mroz A,Rutkowski A,Paczkowska K,Mikula M,Ostrowski Jdoi
10.1186/s12863-018-0673-0subject
Has Abstractpub_date
2018-09-19 00:00:00pages
85issue
1issn
1471-2156pii
10.1186/s12863-018-0673-0journal_volume
19pub_type
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