Fundación Pública Galega de Medicina Xenómica
Centro de investigación
![Foto de Mercedes](/img/nophoto.png)
Mercedes
Durán Domínguez
Publicacións nas que colabora con Mercedes Durán Domínguez (11)
2024
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
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
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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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
2013
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Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles
Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618
2011
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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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Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
Breast Cancer Research and Treatment, Vol. 119, Núm. 1, pp. 221-232
2008
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The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
Clinical Cancer Research, Vol. 14, Núm. 9, pp. 2861-2869
2003
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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
Human Mutation, Vol. 22, Núm. 4, pp. 301-312
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Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations
European Journal of Human Genetics