期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 29, 期 4, 页码 709-713出版社
SPRINGERNATURE
DOI: 10.1038/s41431-020-00774-w
关键词
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资金
- Spanish Ministry of Health and Consumer Affairs [PI16/01650, PI16/01920]
- FEDER [PI16/01650, PI16/01920]
- Mutua Madrilena Foundation [2012-0036]
- National Institutes of Health from the Eunice Kennedy Shriver National Institute of Child Health and Human Development [K12 HD043483]
The study established a cnLOH profile of synchronous colorectal cancer (SCRC) and found associations between cnLOH and polyclonal SCRC, with inactivation of tumor suppressor genes and cnLOH being rare events in SCRC cases. The research defines distinct patterns of cnLOH in SCRC and provides initial evidence of a role for cnLOH in the etiology of SCRC.
Copy neutral loss of heterozygosity (cnLOH) is a common event in several human malignancies-positing this as a mechanism of carcinogenesis. However, the role of cnLOH in synchronous colorectal cancer (SCRC), a unique CRC subtype, is not well understood. The aim of this study was to establish a cnLOH profile of SCRC using a single-nucleotide polymorphism array (SNP-A), and to explore associations between cnLOH and the genomic landscape of frequently mutated genes in SCRC. Among 74 paired SCRC cases, the most frequently altered regions were 16p11.2-p11.1 (59.5%) and 11p11.2-p11.12 (28.4%). Notably, the 6q11.21-q11.22 region altered by cnLOH was uniquely associated with polyclonal SCRCs (p = 0.038). Together, our analysis suggests that inactivation of tumor suppressor genes and cnLOH are rare events among SCRC cases. This study defines distinct patterns of cnLOH in SCRC, and provides initial evidence of a role for cnLOH in SCRC etiology.
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