Síndromes de reparació del DNA i predisposició al càncer

Selecció de 10 articles en els últims 10 anys
-Ramírez MJ, Pujol R, Trujillo-Quintero JP et al…, and Surrallés J. Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients. Am J Hematol. 2021;1–11. DOI: 10.1002/ajh.26234. (IF 10,04) (22/22): Largest ever reported cohort of Fanconi mosaic patients to demonstrate that somatic genetic correction in blood stem cells leads to long term improved clinical outcome at the hematological level as a probe of concept that gene therapy in Fanconi patients will improve their hematology and long term survival and reduced their leukemia risk.
-Montanuy H, Martínez-Barriocanal A, Casado JA, et al… and Surrallés J. Gefitinib and afatinib show potential efficacy for Fanconi anemia-related head and neck cancer. Clinical Cancer Res. January 31, 2020 doi: 10.1158/1078-0432.CCR-19-1625. (IF: 12.531) (17/17): First ever reported drug to treat Fanconi cancers with rational and a proof of concept that afatinib can be repurposed to treat head and neck cancers in Fanconi patients as it induces cancer specific lethality. These results were the basis of a patent, an orphan drug designation granted by EMA and a clinical trial currently in design and supported by the drug owner Boehringer Ingelheim.
-Río P, Navarro S, Wang W et al…, Surrallés J…and Bueren JA. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia. Nat Med. 2019 Sep;25(9):1396-1401. doi: 10.1038/s41591-019-0550-z. Epub 2019 Sep 9. (IF: 30,64). (32/37): Outcome of first successful gene therapy clinical trial of Fanconi anemia patients without conditioning. Result of a >20 years collaboration led by Juan A. Bueren team. Surrallés team was in charge of all genetic studies required to recruit and follow Fanconi anemia patients. Funded by an EU project, now licenced to Rocket Pharma. Surrallés team has a 15 years long agreement with Rocket Pharma to continue the follow up of all recruited patients.
-Hernandez G, Ramirez MJ, Minguillón J, et al… and Surrallés J (2018) Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1. Nature Communications. DOI: 10.1038/s41467-018-03433-3. (IF: 14.919) (26/26): This study uncovered EDC4 as a novel BRCA1 interacting protein involved in mRNA decapping and in the end-resection step of DNA repair of double strand breaks by homologous recombination. We also provided evidence that rare EDC4 mutations are associated with increased breast cancer predisposition.
-Bogliolo M, Bluteau D, Lespinasse J, et al…and Surrallés J. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genet Med. 2018 Apr;20(4):458-463. (IF: 9,93) (10/10): Discovery of a new and rare Fanconi-like cancer predisposition syndrome: in vivo proof of concept study that demonstrates that interstrand cross-link repair suppresses cancer but is not required to maintain bone marrow function.
-Segui, N, *Mina LB, Lázaro C et al…, Surrallés J, and Valle L.(2015) Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair, Gastroenterology. Sep;149(3):563-6. (IF:22.682) (30/32): Identification of a new colorectal cancer gene, FAN1, by NGS. Surrallés team postdoc Leo Mina is co-first author of this highly cited paper as he performed most of the functional studies.
-Trujillo JP and J Surralles (2015) Savior siblings and Fanconi anemia: analysis of success rates from the family’s perspective. Genetics in Medicine. Nov;17(11):935-8. (IF: 8,822) (2/2): First follow up of parents of Fanconi anemia patients undergoing preimplantation genetic diagnosis to obtain healthy and HLA compatible savior babies. Fanconi was the first disease to be applied this concept in the history of medicine and this study was the first to follow 40 IVF cycles from ooctyes to babies born.
-Bogliolo M., Schuster B., Stoepker C. et al… Detlev Schindler D. and Surrallés J. Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi anemia. Am. J. Hum. Genet. 2013 ; 92, 1-7. (IF: 11.025) (22/22): Discovery of ERCC4 as a new Fanconi anemia gene, FANCQ/XPF, by whole exome sequencing and functional studies. This study allowed improving the diagnosis of Fanconi patients and to undertand the doble role and clinical consequences of ERCC4 in nucleotide excision repair and interstrand cross link repair. Highly cited and led by Surrallés team who received the Discovery Award by the Fanconi Anemia Research Fund (2018, Boston) and German Fanconi Anemia Family Support Groupd (2018, Gested, Germany).
-Trujillo JP, Mina LB, Pujol R et al… and Surrallés J (2012) On the role of FAN1 in Fanconi anemia. Blood. 2012 Jul 5;120(1):86-89. (IF: 23.629) (9/9): Demonstration that FAN1 is a FANCD2 interacting DNA nuclease whose deficiency leads to DNA repair deficiency but does not cause Fanconi anemia.
-Castellà M, Pujol R, Callén R, et al…and Surrallés J. (2011) Origin, functional role and clinical impact of Fanconi anemia FANCA mutations. Blood 117:3759-69. (IF: 23.629) (32/32): One of the largests cohorts of Fanconi anemia patients genetically and clinically characterized to demonstrate that a large proportion of Fanconi patient bear missense mutations leading to abnormally located but stable FANCA protein, as an opportunity for rescuing strategies. This study also explains the origen of the most frequent FA mutation.