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Circadian PERformance in breast cancer : a germline and somatic genetic study of PER3(VNTR) polymorphisms and gene co-expression


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Título : Circadian PERformance in breast cancer : a germline and somatic genetic study of PER3(VNTR) polymorphisms and gene co-expression
Autor : Forés Martos, Jaume.
Cervera Vidal, Raimundo.
Sierra Roca, Julia.
Lozano Asencio, Carlos.
Fedele, Vita.
Cornelissen, Sten.
Tadeo Cervera, Irene.
Falcó Montesinos, Antonio.
Climent Bataller, Joan.
Materias: Cáncer - Aspectos genéticos.Polimorfismo genético.Genetic polymorphisms.Cancer - Genetic aspects.
Editorial : Springer Nature
Citación : Fores-Martos, J., Cervera-Vidal, R., Sierra-Roca, J., Lozano-Asencio, C., Fedele, V., Cornelissen, S. et al. (2021). Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3VNTR polymorphisms and gene co-expression. NPJ Breast Cancer, vol. 7, art. 118 (10 sep.). DOI: https://doi.org/10.1038/s41523-021-00329-2
Resumen : 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 PER3VNRT 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 cancerassociated 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 × 10−12) but not in the rest of breast cancer subtypes.
Descripción : Este artículo se encuentra disponible en la siguiente URL: https://www.nature.com/articles/s41523-021-00329-2
URI : http://hdl.handle.net/10637/13580
Derechos: http://creativecommons.org/licenses/by/4.0/deed.es
ISSN : 2374-4677 (Electrónico)
Fecha de publicación : 10-sep-2021
Centro : Universidad Cardenal Herrera-CEU
Aparece en las colecciones: Dpto. Matemáticas, Física y Ciencias Tecnológicas





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