AI Article Synopsis
- The study examined the feasibility of using exome sequencing to analyze loss of heterozygosity (LOH) in primary breast tumors and their metastatic counterparts.
- Exome sequencing revealed LOH in specific chromosomal regions, with 30 loci in primary tumors and 48 in metastatic lesions, particularly prominent on chromosome 19.
- Multiple genes from certain families, like CECAM, MMP, and ZNF, showed LOH in these regions, indicating potential collective effects in cancer development.
Article Abstract
We explored the feasibility of studying loss of heterozygosity (LOH) by using exome sequencing and compared the differences in genetic LOH between primary breast tumors and metastatic lesions. Exome sequencing was conducted to investigate the genetic LOH in the peripheral blood, a primary tumor, and a metastatic lesion from the same patient. LOH was observed in 30 and 48 chromosomal loci of the primary tumor and metastatic lesion, respectively. The incidence of LOH was the highest on chromosome 19, followed by chromosomes 14, 3, and 11 in the metastatic lesion. Among these 'hot' regions, LOH was observed for multiple genes of the CECAM, MMP and ZNF families. Therefore, the use of exome sequencing for studying LOH is feasible. More members of gene families appeared with LOH in 'hot' regions, suggesting that these gene families had synergistic effects in tumorigenesis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381542 | PMC |
| http://dx.doi.org/10.1038/srep05460 | DOI Listing |
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