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Clinica Chimica Acta; International Journal of Clinical Chemistry|December 7, 2023
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutationsMar Infante, Mónica Arranz-Ledo, Enrique Lastra, et al.
International Journal of Molecular Sciences|October 14, 2022
Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?Mar Infante, Mónica Arranz-Ledo, Enrique Lastra, et al.
Genes|April 26, 2025
Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with <i>RAD50</i>, <i>RAD51C/D</i>, and <i>BRIP1</i> Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative FamiliesMónica Arranz-Ledo, Mar Infante, Enrique Lastra, et al.
Medicina Clinica|October 19, 2002
[Molecular study of the BRCA1 and BRCA2 genes in 153 breast cancer families from Castilla and León (Spain): new nine unclassified variants identified]Eladio Velasco Sampedro, Eva Esteban Cardeñosa, Mar Infante Sanz, et al.
Cancer Prevention Research (Philadelphia, Pa.)|July 28, 2011
Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2Lucia Pérez-Cabornero, Mar Infante Sanz, Eladio Velasco Sampedro, et al.
Breast (Edinburgh, Scotland)|December 7, 2018
A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian CancerCarolina Velázquez, Eva M Esteban-Cardeñosa, Enrique Lastra, et al.
Molecular Carcinogenesis|September 20, 2018
Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancerCarolina Velázquez, Eva M Esteban-Cardeñosa, Enrique Lastra, et al.
Breast Cancer Research and Treatment|May 17, 2018
Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variantsEugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, et al.
Human Mutation|October 12, 2013
GALNT12 is not a major contributor of familial colorectal cancer type XNuria Seguí, Marta Pineda, Matilde Navarro, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 11, 2010
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patientsDavid J Sanz, Alberto Acedo, Mar Infante, et al.
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