MARIA MERCEDES
DURAN DOMINGUEZ
PROFESOR CONTRATADO DOCTOR
Hospital Clínico San Carlos de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Clínico San Carlos de Madrid (26)
2022
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A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility
Cancers, Vol. 14, Núm. 19
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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
2020
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
2018
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Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer
Gastroenterology, Vol. 154, Núm. 1, pp. 181-194.e20
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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
2017
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Nature Genetics, Vol. 49, Núm. 5, pp. 680-691
2015
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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361
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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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Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair
Gastroenterology, Vol. 149, Núm. 3, pp. 563-566
2014
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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
2013
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Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
PLoS Genetics, Vol. 9, 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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Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
Cancer Epidemiology Biomarkers and Prevention, Vol. 21, Núm. 4, pp. 645-657
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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
Human Mutation, Vol. 33, Núm. 4, pp. 690-702
2011
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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
Breast Cancer Research, Vol. 13, Núm. 6
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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
Journal of the National Cancer Institute, Vol. 103, Núm. 2, pp. 105-116
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Human Genetics, Vol. 130, Núm. 5, pp. 685-699
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International distribution and age estimation of the Portuguese BRCA2 c.156-157insAlu founder mutation
Breast Cancer Research and Treatment, Vol. 127, Núm. 3, pp. 671-679
2010
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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin
Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction
Cancer Research, Vol. 70, Núm. 23, pp. 9742-9754