| First Author | Fores-Martos J | Year | 2021 |
| Journal | NPJ Breast Cancer | Volume | 7 |
| Issue | 1 | Pages | 118 |
| PubMed ID | 34508103 | Mgi Jnum | J:356810 |
| Mgi Id | MGI:7762902 | Doi | 10.1038/s41523-021-00329-2 |
| Citation | Fores-Martos J, et al. (2021) Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3(VNTR) polymorphisms and gene co-expression. NPJ Breast Cancer 7(1):118 |
| abstractText | Polymorphisms in the PER3 gene have been associated with several human disease phenotypes, including sleep disorders and cancer. In particular, the long allele of a variable number of tandem repeat (VNTR) polymorphism has been previously linked to an increased risk of breast cancer. Here we carried out a combined germline and somatic genetic analysis of the role of the PER3(VNRT) polymorphism in breast cancer. The combined data from 8284 individuals showed a non-significant trend towards increased breast cancer risk in the 5-repeat allele homozygous carriers (OR = 1.17, 95% CI: 0.97-1.42). We observed allelic imbalance at the PER3 locus in matched blood and tumor DNA samples, showing a significant retention of the long variant (risk) allele in tumor samples, and a preferential loss of the short repetition allele (p = 0.0005). Gene co-expression analysis in healthy and tumoral breast tissue samples uncovered significant associations between PER3 expression levels with those from genes which belong to several cancer-associated pathways. Finally, relapse-free survival (RFS) analysis showed that low expression levels of PER3 were linked to a significant lower RSF in luminal A (p = 3 x 10(-12)) but not in the rest of breast cancer subtypes. |
