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Reina-Castillón J, Pujol R, López-Sánchez M, et al. Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia. Blood Adv. 2017;1(5):319-329doi: 10.1182/bloodadvances.2016000943.
Reina-Castillón, J., Pujol, R., López-Sánchez, M., Rodríguez-Santiago, B., Aza-Carmona, M., González, J. R., Casado, J. A., Bueren, J. A., Sevilla, J., Badel, I., Català, A., Beléndez, C., Dasí, M. �. �., Díaz de Heredia, C., Soulier, J., Schindler, D., Pérez-Jurado, L. A., & Surrallés, J. (2017). Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia. Blood advances, 1(5), 319-329. https://doi.org/10.1182/bloodadvances.2016000943
Reina-Castillón, Judith, et al. "Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia." Blood advances vol. 1,5 (2017): 319-329. doi: https://doi.org/10.1182/bloodadvances.2016000943
Reina-Castillón J, Pujol R, López-Sánchez M, Rodríguez-Santiago B, Aza-Carmona M, González JR, Casado JA, Bueren JA, Sevilla J, Badel I, Català A, Beléndez C, Dasí MÁ, Díaz de Heredia C, Soulier J, Schindler D, Pérez-Jurado LA, Surrallés J. Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia. Blood Adv. 2017 Jan 23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943. eCollection 2017 Jan 24. PMID: 29296947; PMCID: PMC5744036.
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Blood Adv. 2017 Jan 23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943. eCollection 2017 Jan 24.

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.

Blood advances

Judith Reina-Castillón, Roser Pujol, Marcos López-Sánchez, Benjamín Rodríguez-Santiago, Miriam Aza-Carmona, Juan Ramón González, José Antonio Casado, Juan Antonio Bueren, Julián Sevilla, Isabel Badel, Albert Català, Cristina Beléndez, María Ángeles Dasí, Cristina Díaz de Heredia, Jean Soulier, Detlev Schindler, Luis Alberto Pérez-Jurado, Jordi Surrallés

Affiliations

  1. Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
  2. Hospital del Mar Research Institute, Barcelona, Spain.
  3. Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.
  4. Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Spain.
  5. Centre for Research in Environmental Epidemiology, ISGlobal, Barcelona, Spain.
  6. qGenomics Laboratory, Esplugues de Llobregat, Spain.
  7. Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública, Barcelona, Spain.
  8. Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, Madrid, Spain.
  9. Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain.
  10. Hematology Service, Hospital Niño Jesús, Madrid, Spain.
  11. Pediatrics Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  12. Hematology Service, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.
  13. Oncohematology Service, Hospital Gregorio Marañón, Madrid, Spain.
  14. Hematology Service, Hospital Universitario la Fe, Valencia, Spain.
  15. Hemato-Oncology Service, Hospital Maternoinfantil Vall d'Hebron, Barcelona, Spain.
  16. Institute of Hematology, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
  17. INSERM, Unité Mixte de Recherche 944, and.
  18. Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7212, Saint-Louis Hospital, Paris, France.
  19. Department of Human Genetics, University of Würzburg, Würzburg, Germany; and.
  20. Genetics Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

PMID: 29296947 PMCID: PMC5744036 DOI: 10.1182/bloodadvances.2016000943

Abstract

Detectable clonal mosaicism for large chromosomal events has been associated with aging and an increased risk of hematological and some solid cancers. We hypothesized that genetic cancer predisposition disorders, such as Fanconi anemia (FA), could manifest a high rate of chromosomal mosaic events (CMEs) in peripheral blood, which could be used as early biomarkers of cancer risk. We studied the prevalence of CMEs by single-nucleotide polymorphism (SNP) array in 130 FA patients' blood DNA and their impact on cancer risk. We detected 51 CMEs (4.4-159 Mb in size) in 16 out of 130 patients (12.3%), of which 9 had multiple CMEs. The most frequent events were gains at 3q (n = 6) and 1q (n = 5), both previously associated with leukemia, as well as rearrangements with breakpoint clustering within the major histocompatibility complex locus (

Conflict of interest statement

Conflict-of-interest disclosure: B.R.-S. is an employee of, and L.A.P.-J. is a scientific advisor for, qGenomics, SL. The remaining authors declare no competing financial interests.

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