Publications

Lab publications:

Basurto-Lozada P, Molina-Aguilar C, Castañeda-Garcia C, Vázquez-Cruz ME, Garcia-Salinas OI, Álvarez-Cano A, Martínez-Said H, Roldán-Marín R, Adams DJ, Possik PA, Robles-Espinoza CD (2020). Acral lentiginous melanoma: Basic facts, biological characteristics and research perspectives of an understudied disease. Pigment Cell Melanoma Res. 2020 Apr 24. doi: 10.1111/pcmr.12885. PMID: 32330367

Adams DJ, Bishop DT, Robles-Espinoza CD (2019). Melanoma predisposition-A limited role for germline BRCA1 and BRCA2 variants. Pigment Cell Melanoma Res 33(1):6-7. doi: 10.1111/pcmr.12833. PMID: 31610093

Ossio R, Garcia-Salinas OI, Anaya-Mancilla DS, Garcia-Sotelo JS, Aguilar LA, Adams DJ, Robles-Espinoza CD (2019). VCF/Plotein: Visualisation and prioritisation of genomic variants from human exome sequencing projects. Bioinformatics Jun 4. pii: btz458. doi: 10.1093/bioinformatics/btz458. [Epub ahead of print]. PMID: 31161195

Wong K*, Robles-Espinoza CD*, Rodriguez D, Rudat SS, Puig S, Potrony M, Wong CC, Hewinson J, Aguilera P, Puig-Butille JA, Bressac-de Paillerets B, Zattara H, van der Weyden L, Fletcher CDM, Brenn T, Arends MJ, Quesada V, Newton-Bishop JA, Lopez-Otin C, Bishop DT, Harms PW, Johnson TM, Durham AB, Lombard DB, Adams DJ (2018). Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. JAMA Dermatol. Dec 26. doi: 10.1001/jamadermatol.2018.3662. [Epub ahead of print]. *Equal contributions. PMID 30586141

Rabbie R, Ferguson P, Molina-Aguilar C, Adams DJ, Robles-Espinoza CD (2018). Melanoma subtypes: Genomic profiles, prognostic molecular markers and therapeutic possibilities. J Pathol Dec 3. doi: 10.1002/path.5213. [Epub ahead of print] Review. PMID 30511391

Robles-Espinoza CD (2018). Beating tumour drug resistance: “Lamarckian” induction in the spotlight. Pigment Cell Melanoma Res. Oct 19. doi: 10.1111/pcmr.12744. PMID 30339326

Nguyen NTT, Contreras-Moreira B, Castro-Mondragon JA, Santana-Garcia W, Ossio R, Robles-Espinoza CD, Bahin M, Collombet S, Vincens P, Thieffry D, van Helden J, Medina-Rivera A, Thomas-Chollier M (2018). RSAT 2018: regulatory sequence analysis tools 20th anniversary. Nucleic Acids Res 46(W1):W209-W214 doi: 10.1093/nar/gky317. PMID: 29722874

Ossio R, Roldán-Marín R, Martínez-Said H, Adams DJ, Robles-Espinoza CD (2017). Melanoma – a global perspective. Nat Rev Cancer 17(7):393-394 doi:10.1038/nrc.2017.43. PMID: 28450704

O’Shea SJ*, Robles-Espinoza CD*, McLellan L*, Harrigan J, Jacq X, Hewinson J, Iyer V, Merchant W, Elliott F, Harland M, Timothy Bishop D, Newton-Bishop J, Adams DJ (2017). A population-based analysis of germline BAP1 mutations in melanoma. Hum Mol Genet 26(4):717-728. doi: 10.1093/hmg/ddw403.*Equal contributions. PMID: 28062663

Robles-EThis article has been recommended in F1000Prime as being of special significance in its field!spinoza CD*, Roberts ND*, Chen S*, Leacy FP, Alexandrov LB, Pornputtapong N, Halaban R, Krauthammer M, Cui R, Timothy Bishop D, Adams DJ (2016). Germline MC1R status influences somatic mutation burden in melanoma. Nat Commun 7:12064. doi: 10.1038/ncomms12064.*Equal contributions. PMID: 27403562 (See media related to this article)

 

Other publications:

Muñoz-Escalante JC, Comas-García A, Bernal-Silva S, Robles-Espinoza CD, Gómez-Leal G, Noyola DE (2019). Respiratory Syncytial Virus A Genotype Classification Based on Systematic Intergenotypic and Intragenotypic Sequence Analysis. Sci Rep. 2019 Dec 27;9(1):20097. doi: 10.1038/s41598-019-56552-2. PMID: 31882808
Rashid M, van der Horst M, Mentzel T, Butera F, Ferreira I, Pance A, Rütten A, Luzar B, Marusic Z, de Saint Aubain N, Ko JS, Billings SD, Chen S, Abi Daoud M, Hewinson J, Louzada S, Harms PW, Cerretelli G, Robles-Espinoza CD, Patel RM, van der Weyden L, Bakal C, Hornick JL, Arends MJ, Brenn T, Adams DJ (2019). ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.Nat Commun 10(1):2213. doi: 10.1038/s41467-019-09979-0. PMID: 31101826

Herbert K, Binet R, Lambert JP, Louphrasitthiphol P, Kalkavan H, Sesma-Sanz L, Robles-Espinoza CD, Sarkar S, Suer E, Andrews S, Chauhan J, Roberts ND, Middleton MR, Gingras AC, Masson JY, Larue L, Falletta P, Goding CR (2019). BRN2 suppresses apoptosis, reprograms DNA damage repair, and is associated with a high somatic mutation burden in melanoma.Genes Dev 33(5-6):310-332. doi: 10.1101/gad.314633.118. PMID: 30804224

 

 

Wong K, van der Weyden L, Schott CR, Foote A, Constantino-Casas F, Smith S, Dobson JM, Murchison EP, Wu H, Yeh I, Fullen DR, Joseph N, Bastian BC, Patel RM, Martincorena I, Robles-Espinoza CD, Iyer V, Kuijjer ML, Arends MJ, Brenn T, Harms PW, Wood GA, Adams DJ (2019). Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.Nat Commun 10(1):353. doi: 10.1038/s41467-018-08081-1. PMID: 30664638

Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O’Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK (2018). Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. J Natl Cancer Inst. Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. PMID 30517737

Potrony M, Puig-Butille JA, Ribera-Sola M, Iyer V, Robles-Espinoza CD, Aguilera P, Carrera C, Malvehy J, Badenas C, Landi MT, Adams DJ, Puig S (2018). POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.Br J Dermatol Nov 19. doi: 10.1111/bjd.17443. PMID 30451293

Rabbie R, Rashid M, Arance AM, Sánchez M, Tell-Marti G, Potrony M, Conill C, van Doorn R, Dentro S, Gruis NA, Corrie P, Iyer V, Robles-Espinoza CD, Puig-Butille JA, Puig S, Adams DJ (2017). Genomic analysis and clinical management of adolescent cutaneous melanoma. Pigment Cell Melanoma Res 30(3):307-316. doi: 10.1111/pcmr.12574. PMID: 28097802

Brammeld JS, Petljak M, Martincorena I, Williams SP, Alonso LG, Dalmases A, Bellosillo B, Robles-Espinoza CD, Price S, Barthorpe S, Tarpey P, Alifrangis C, Bignell G, Vidal J, Young J, Stebbings L, Beal K, Stratton MR, Saez-Rodriguez J, Garnett M, Montagut C, Iorio F, McDermott U (2017). Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations. Genome Res 27(4):613-625. doi: 10.1101/gr.213546.116. PMID: 28179366

McIntyre RE, Nicod J, Robles-Espinoza CD, Maciejowski J, Cai N, Hill J, Verstraten R, Iyer V, Rust AG, Balmus G, Mott R, Flint J, Adams DJ (2016). A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice.G3 (Bethesda) 6(8):2343-54. doi: 10.1534/g3.116.030767. PMID: 27233670

Harland M, Petljak M, Robles-Espinoza CD, Ding Z, Gruis NA, van Doorn R, Pooley KA, Dunning AM, Aoude LG, Wadt KA, Gerdes AM, Brown KM, Hayward NK, Newton-Bishop JA, Adams DJ, Bishop DT (2016). Germline TERT promoter mutations are rare in familial melanoma. Fam Cancer 15(1):139-44. doi: 10.1007/s10689-015-9841-9. PMID: 26433962
van der Weyden L, Giotopoulos G, Wong K, Rust AG, Robles-Espinoza CD, Osaki H, Huntly BJ, Adams DJ (2015). Somatic drivers of B-ALL in a model of ETV6-RUNX1; Pax5(+/-) leukemia. BMC Cancer 15:585. doi: 10.1186/s12885-015-1586-1. PMID: 26269126
Robles-Espinoza CD, Velasco-Herrera M del C, Hayward NK, Adams DJ (2015). Telomere-regulating genes and the telomere interactome in familial cancers. Mol Cancer Res 13(2):211-22. doi: 10.1158/1541-7786.MCR-14-0305. PMID: 25244922

Ranzani M, Alifrangis C, Perna D, Dutton-Regester K, Pritchard A, Wong K, Rashid M, Robles-Espinoza CD, Hayward NK, McDermott U, Garnett M, Adams DJ (2015). BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib. Pigment Cell Melanoma Res 28(1):117-9. doi: 10.1111/pcmr.12316. PMID: 25243813

Aoude LG*, Pritchard AL*, Robles-Espinoza CD*, Wadt K*, Harland M*, Choi J, Gartside M, Quesada V, Johansson P, Palmer JM, Ramsay AJ, Zhang X, Jones K, Symmons J, Holland EA, Schmid H, Bonazzi V, Woods S, Dutton-Regester K, Stark MS, Snowden H, van Doorn R, Montgomery GW, Martin NG, Keane TM, López-Otín C, Gerdes AM, Olsson H, Ingvar C, Borg A, Gruis NA, Trent JM, Jönsson G, Bishop DT, Mann GJ, Newton-Bishop JA, Brown KM, Adams DJ, Hayward NK (2014). Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. J Natl Cancer Inst 13;107(2). pii: dju408. doi: 10.1093/jnci/dju408. PMID: 25505254

Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ (2014). POT1 loss-of-function variants predispose to familial melanoma. Nat Genet 46(5):478-81. doi: 10.1038/ng.2947. PMID: 24686849 (See media related to this article)

Robles-Espinoza CD, Adams DJ (2014). Cross-species analysis of mouse and human cancer genomes. Cold Spring Harb Protoc. 2014(4):350-8. doi: 10.1101/pdb.top078824. PMID: 24173316

Rashid M, Robles-Espinoza CD, Rust AG, Adams DJ (2013). Cake: a bioinformatics pipeline for the integrated analysis of somatic variants in cancer genomes. Bioinformatics 29(17):2208-10. doi: 10.1093/bioinformatics/btt371. PMID: 23803469

van der Weyden L, Rust AG, McIntyre RE, Robles-Espinoza CD, del Castillo Velasco-Herrera M, Strogantsev R, Ferguson-Smith AC, McCarthy S, Keane TM, Arends MJ, Adams DJ (2013). Jdp2 downregulates Trp53 transcription to promote leukaemogenesis in the context of Trp53 heterozygosity. Oncogene 32(3):397-402. doi: 10.1038/onc.2012.56. PMID: 22370638

Guardar

Guardar