@article{FernandezRodriguezQuilesBlancoetal.2012,
  author    = {Fern{\´a}ndez-Rodr{\´i}guez, Juana and Quiles, Francisco and Blanco, Ignacio and Teul{\´e}, Alex and Feliubadal{\´o}, L{\´i}dia and del Valle, Jes{\´u}s and Salinas, M{\´o}nica and Izquierdo, {\´A}ngel and Darder, Esther and Schindler, Detlev and Capell{\´a}, Gabriel and Brunet, Joan and L{\´a}zaro, Conxi and Angel Pujana, Miguel},
  title     = {Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families},
  series = {BMC Cancer},
  volume    = {12},
  journal   = {BMC Cancer},
  number    = {84},
  doi       = {10.1186/1471-2407-12-84},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-131772},
  year      = {2012},
  abstract  = {Background: Genes that, when mutated, cause Fanconi anemia or greatly increase breast cancer risk encode for proteins that converge on a homology-directed DNA damage repair process. Mutations in the SLX4 gene, which encodes for a scaffold protein involved in the repair of interstrand cross-links, have recently been identified in unclassified Fanconi anemia patients. A mutation analysis of SLX4 in German or Byelorussian familial cases of breast cancer without detected mutations in BRCA1 or BRCA2 has been completed, with globally negative results. Methods: The genomic region of SLX4, comprising all exons and exon-intron boundaries, was sequenced in 94 Spanish familial breast cancer cases that match a criterion indicating the potential presence of a highly-penetrant germline mutation, following exclusion of BRCA1 or BRCA2 mutations. Results: This mutational analysis revealed extensive genetic variation of SLX4, with 21 novel single nucleotide variants; however, none could be linked to a clear alteration of the protein function. Nonetheless, genotyping 10 variants (nine novel, all missense amino acid changes) in a set of controls (138 women and 146 men) did not detect seven of them. Conclusions: Overall, while the results of this study do not identify clearly pathogenic mutations of SLX4 contributing to breast cancer risk, further genetic analysis, combined with functional assays of the identified rare variants, may be warranted to conclusively assess the potential link with the disease.},
  language  = {en}
}
@article{HernandezJoseRamirezMinguillonetal.2018,
  author    = {Hern{\´a}ndez, Gonzalo and Jos{\´e} Ram{\´i}rez, Mar{\´i}a and Minguill{\´o}n, Jordi and Quiles, Paco and Ruiz de Garibay, Gorka and Aza-Carmona, Miriam and Bogliolo, Massimo and Pujol, Roser and Prados-Carvajal, Rosario and Fern{\´a}ndez, Juana and Garc{\´i}a, Nadia and L{\´o}pez, Adri{\`a} and Guti{\´e}rrez-Enr{\´i}quez, Sara and Diez, Orland and Ben{\´i}tez, Javier and Salinas, M{\´o}nica and Teul{\´e}, Alex and Brunet, Joan and Radice, Paolo and Peterlongo, Paolo and Schindler, Detlev and Huertas, Pablo and Puente, Xose S. and L{\´a}zaro, Conxi and {\`A}ngel Pujana, Miquel and Surrall{\´e}s, Jordi},
  title     = {Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1},
  series = {Nature Communications},
  volume    = {9},
  journal   = {Nature Communications},
  doi       = {10.1038/s41467-018-03433-3},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-319929},
  year      = {2018},
  abstract  = {BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors are exquisitely sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors. Therefore, uncovering additional components of this DNA repair pathway is of extreme importance for further understanding cancer development and therapeutic vulnerabilities. Here, we identify EDC4, a known component of processing-bodies and regulator of mRNA decapping, as a member of the BRCA1-BRIP1-TOPBP1 complex. EDC4 plays a key role in homologous recombination by stimulating end resection at double-strand breaks. EDC4 deficiency leads to genome instability and hypersensitivity to DNA interstrand cross-linking drugs and PARP inhibitors. Lack-of-function mutations in EDC4 were detected in BRCA1/2-mutation-negative breast cancer cases, suggesting a role in breast cancer susceptibility. Collectively, this study recognizes EDC4 with a dual role in decapping and DNA repair whose inactivation phenocopies BRCA1 deficiency.},
  language  = {en}
}