MARIA DEL MAR
INFANTE SANZ
PROFESOR AYUDANTE DOCTOR
Instituto de Biología y Genética Molecular
Valladolid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Biología y Genética Molecular (17)
2024
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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
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
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
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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GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X
Human Mutation, Vol. 35, Núm. 1, pp. 50-52
2013
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Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
PLoS ONE, Vol. 8, Núm. 7
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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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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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Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes
Breast Cancer Research, Vol. 14, Núm. 3
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Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315
2010
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A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients
Clinical Cancer Research, Vol. 16, Núm. 6, pp. 1957-1967
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Two founder BRCA2 mutations predispose to breast cancer in young women
Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571
2002
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Estudio molecular de los genes BRCA1 y BRCA2 en 153 familias con cáncer de mama de Castilla y León (España): Identificación de nueve variantes de efecto desconocido no descritas
Medicina Clinica, Vol. 119, Núm. 12, pp. 441-445