MARIA MERCEDES
DURAN DOMINGUEZ
PROFESOR CONTRATADO DOCTOR
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Complejo Asistencial Universitario de Burgos
Burgos, EspañaPublicaciones en colaboración con investigadores/as de Complejo Asistencial Universitario de Burgos (26)
2024
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Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
Clinica Chimica Acta, Vol. 552
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Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?
Revista espanola de enfermedades digestivas, Vol. 116, Núm. 4, pp. 234-235
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Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?
Revista Espanola de Enfermedades Digestivas, Vol. 116, Núm. 4, pp. 233-234
2023
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Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases
Pathology Research and Practice, Vol. 247
2022
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Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
International Journal of Molecular Sciences, Vol. 23, Núm. 19
2021
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ARID1A genomic alterations driving microsatellite instability through somatic MLH1 methylation with response to immunotherapy in metastatic lung adenocarcinoma: a case report
Journal of Medical Case Reports, Vol. 15, Núm. 1
2020
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A comprehensive custom panel evaluation for routine hereditary cancer testing: Improving the yield of germline mutation detection
Journal of Translational Medicine, Vol. 18, Núm. 1
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BRCA Tumor Analysis as Molecular Screening for Germline Testing
Annals of Clinical Oncology, pp. 1-7
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Germline genetic findings which may impact therapeutic decisions in families with a presumed predisposition for hereditary breast and ovarian cancer
Cancers, Vol. 12, Núm. 8, pp. 1-17
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Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization
Cancers, Vol. 12, Núm. 11, pp. 1-16
2019
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A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer
Breast, Vol. 43, pp. 91-96
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Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer
Molecular Carcinogenesis, Vol. 58, Núm. 1, pp. 156-160
2018
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Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants
Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63
2015
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Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair
Gastroenterology, Vol. 149, Núm. 3, pp. 563-566
2013
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Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays
Journal of Molecular Diagnostics, Vol. 15, Núm. 3, pp. 380-390
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Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome
International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201
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Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer
Colorectal Disease, Vol. 15, Núm. 3
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The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins
Carcinogenesis, Vol. 34, Núm. 11, pp. 2505-2511
2012
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Lynch syndrome diagnostics: Decision-making process for germ-line testing
Clinical and Translational Oncology, Vol. 14, Núm. 4, pp. 254-262
2011
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Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype
Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1546-1555