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Real-World Use of Highly Sensitive Liquid Biopsy Monitoring in Metastatic Breast Cancer Patients Treated with Endocrine Agents after Exposure to Aromatase Inhibitors.
Fuentes-Antrás J, Martínez-Rodríguez A, Guevara-Hoyer K, López-Cade I, Lorca V, Pascual A, de Luna A, Ramírez-Ruda C, Swindell J, Flores P, Lluch A, Cescon DW, Pérez-Segura P, Ocaña A, Jones F, Moreno F, García-Barberán V, García-Sáenz JÁ. Fuentes-Antrás J, et al. Among authors: lorca v. Int J Mol Sci. 2023 Jul 13;24(14):11419. doi: 10.3390/ijms241411419. Int J Mol Sci. 2023. PMID: 37511178 Free PMC article.
Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.
Lorca V, Rueda D, Martín-Morales L, Poves C, Fernández-Aceñero MJ, Ruiz-Ponte C, Llovet P, Marrupe D, García-Barberán V, García-Paredes B, Pérez-Segura P, de la Hoya M, Díaz-Rubio E, Caldés T, Garre P. Lorca V, et al. PLoS One. 2017 Nov 2;12(11):e0187312. doi: 10.1371/journal.pone.0187312. eCollection 2017. PLoS One. 2017. PMID: 29095867 Free PMC article.
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.
Lorca V, Rueda D, Martín-Morales L, Fernández-Aceñero MJ, Grolleman J, Poves C, Llovet P, Tapial S, García-Barberán V, Sanz J, Pérez-Segura P, de Voer RM, Díaz-Rubio E, de la Hoya M, Caldés T, Garre P. Lorca V, et al. Sci Rep. 2019 Jul 8;9(1):9814. doi: 10.1038/s41598-019-46403-5. Sci Rep. 2019. PMID: 31285513 Free PMC article.
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomäki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldés T, Caliebe A, Caligo MA, Calvello M, Campbell IG, Carnevali I, Carrasco E, Chan TL, Chu ATW, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Puppa LD, Dennis J, Díez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadaló L, Foretova L, Fostira F, Fountzilas G, Frost D, García-Barberán V, Garre P, Gauthier-Villars M, Géczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopper JL, … See abstract for full author list ➔ Patel VL, et al. Among authors: lorca v. Cancer Res. 2020 Feb 1;80(3):624-638. doi: 10.1158/0008-5472.CAN-19-1840. Epub 2019 Nov 13. Cancer Res. 2020. PMID: 31723001 Free PMC article.
BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X.
Martín-Morales L, Garre P, Lorca V, Cazorla M, Llovet P, Bando I, García-Barberan V, González-Morales ML, Esteban-Jurado C, de la Hoya M, Castellví-Bel S, Caldés T. Martín-Morales L, et al. Among authors: lorca v. Cancer Prev Res (Phila). 2021 Feb;14(2):185-194. doi: 10.1158/1940-6207.CAPR-20-0316. Epub 2020 Oct 28. Cancer Prev Res (Phila). 2021. PMID: 33115781
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.
Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Lorca V, Gómez-Sanz A, Carvalho S, Allen J, Infante M, Pérez-Segura P, Lázaro C, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco EA. Bueno-Martínez E, et al. Among authors: lorca v. Cancers (Basel). 2021 Jun 7;13(11):2845. doi: 10.3390/cancers13112845. Cancers (Basel). 2021. PMID: 34200360 Free PMC article.
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A, Bueno-Martínez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sánchez A, Gómez-Barrero S, Carvalho S, Allen J, García-Álvarez A, Pérez-Segura P, Dorling L, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco EA. Valenzuela-Palomo A, et al. Among authors: lorca v. J Pathol. 2022 Mar;256(3):321-334. doi: 10.1002/path.5839. Epub 2021 Dec 28. J Pathol. 2022. PMID: 34846068 Free PMC article.
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco-Sampedro EA. Bueno-Martínez E, et al. Among authors: lorca v. J Pathol. 2022 Sep;258(1):83-101. doi: 10.1002/path.5979. Epub 2022 Jul 15. J Pathol. 2022. PMID: 35716007 Free PMC article.
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Infante M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: lorca v. Clin Chem. 2024 Jan 4;70(1):319-338. doi: 10.1093/clinchem/hvad125. Clin Chem. 2024. PMID: 37725924
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