Farmacogenética, Genética del Cáncer, Polimorfismos Genéticos y Farmacoepidemiología
Institute Catalá Oncología
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Institute Catalá Oncología (15)
2020
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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
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
2014
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Breast Cancer Research, Vol. 16
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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
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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Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
PLoS ONE, Vol. 8, Núm. 2
2011
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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
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 genetic variants and modification of penetrance of BRCA2-associated breast cancer
PLoS Genetics, Vol. 6, Núm. 10, pp. 1-12
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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
2009
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The TP53 Arg72Pro and MDM2 309GT polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
British Journal of Cancer, Vol. 101, Núm. 8, pp. 1456-1460
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