PEDRO
PÉREZ SEGURA
Profesor asociado de Ciencias de la Salud
Hospital Vall d'Hebron
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (22)
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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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Communications biology, Vol. 5, Núm. 1, pp. 1061
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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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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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
2019
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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
2018
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A phase Ib/II study (SCORES) of durvalumab (D) plus danvatirsen (DAN; AZD9150) or AZD5069 (CX2i) in advanced solid malignancies and recurrent/metastatic head and neck squamous cell carcinoma (RM-HNSCC): Updated results
Annals of oncology : official journal of the European Society for Medical Oncology, Vol. 29, pp. viii372
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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
2016
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Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: A Spanish expanded access trial
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
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Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
Breast Cancer Research, Vol. 18, Núm. 1
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
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Mammographic density and breast cancer in women from high risk families
Breast Cancer Research, Vol. 17, Núm. 1
2014
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Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC)
Clinical and Translational Oncology, Vol. 16, Núm. 3, pp. 280-284
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Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants
Human Mutation, Vol. 35, Núm. 1, pp. 53-57
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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Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families
European Journal of Human Genetics, Vol. 21, Núm. 8, pp. 883-886
2012
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Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: Review of the literature, and reevaluation of the genetic mechanisms involved in their origin
Breast Cancer Research and Treatment, Vol. 133, Núm. 1, pp. 273-283
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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
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Guidelines for biomarker testing in colorectal carcinoma (CRC): A national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM)
Clinical and Translational Oncology, Vol. 14, Núm. 10, pp. 726-739