MARIA DEL MAR
INFANTE SANZ
PROFESOR AYUDANTE DOCTOR
Publicaciones (39) Publicaciones de MARIA DEL MAR INFANTE SANZ
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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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338
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
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Multiomics insights on the onset, progression, and metastatic evolution of breast cancer
Frontiers in Oncology, Vol. 13
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
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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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108
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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Application of liquid biopsies in metastatic gastrointestinal cancer to identify candidate therapeutic targets
Annals of Oncology, Vol. 29, pp. vi1
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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
Human Mutation, Vol. 39, Núm. 9, pp. 1155-1160
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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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BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study
Familial Cancer, Vol. 14, Núm. 4, pp. 505-513
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Cuándo aparecieron las mutaciones que predisponen a cáncer de mama y ovario hereditario en Castilla y León
Femina: mujeres en la historia (Valladolid : Ediciones Universidad de Valladolid, 2015), pp. 203-215
2014
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About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants
International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
PLoS Genetics, Vol. 10, Núm. 4
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GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X
Human Mutation, Vol. 35, Núm. 1, pp. 50-52