PEDRO
PÉREZ SEGURA
Profesor asociado de Ciencias de la Salud
![Foto de PEDRO](/img/nophoto.png)
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Leiden University Medical Center
Leiden, HolandaPublicaciones en colaboración con investigadores/as de Leiden University Medical Center (15)
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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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
Journal of the National Cancer Institute, Vol. 114, Núm. 1, pp. 109-122
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Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))
European journal of human genetics : EJHG
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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
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334
2021
2020
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Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness
Cancer Research, Vol. 80, Núm. 3, pp. 624-638
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Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230
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Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene
Cancers, Vol. 12, Núm. 12, pp. 1-21
2019
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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: An ENIGMA report
Journal of Medical Genetics, Vol. 56, Núm. 7, pp. 453-460
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578
2015
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Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers
Cancer Epidemiology Biomarkers and Prevention, Vol. 24, Núm. 1, pp. 308-316
2011
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Human Genetics, Vol. 130, Núm. 5, pp. 685-699
2002
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Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing
International Journal of Cancer, Vol. 97, Núm. 4, pp. 466-471