Lista de obras -

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

artículo científico publicado en 2016

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

artículo científico publicado en 2013

Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).

artículo científico publicado en 2013

Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction

scientific article published on 20 April 2020

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

artículo científico publicado en 2013

Caution Should Be Used When Interpreting Alterations Affecting the Exon 3 of the BRCA2 Gene in Breast/Ovarian Cancer Families

article

Clinical and Pathological Characterization of Lynch-Like Syndrome

scientific article published on 17 June 2019

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia

artículo científico publicado en 2020

Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation

artículo científico publicado en 2010

Cáncer de mama y ovario hereditario: prevención primaria y secundaria en mujeres portadoras de mutación en los genes BRCA1 y BRCA2

article

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing

artículo científico publicado en 2012

Frequency of breast cancer with hereditary risk features in Spain: Analysis from GEICAM "El Álamo III" retrospective study.

artículo científico publicado en 2017

Gene expression profiling integrated into network modelling reveals heterogeneity in the mechanisms of BRCA1 tumorigenesis

artículo científico publicado en 2009

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing

artículo científico publicado en 2014

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

artículo científico publicado en 2009

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

artículo científico publicado en 2006

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

artículo científico publicado en 2020

Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.

artículo científico publicado en 2010

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain

artículo científico publicado en 2002

Mammographic density and breast cancer in women from high risk families

artículo científico publicado en 2015

Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in theMSH2 gene

article

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

artículo científico publicado en 2017

Perception of breast cancer risk and surveillance behaviours of women with family history of breast cancer: A brief report on a Spanish cohort

article

Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain ⬇️

artículo científico publicado el 1 de junio de 2012

Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain.

artículo científico publicado en 2018

Quality of colonoscopy is associated with adenoma detection and post-colonoscopy colorectal cancer prevention in Lynch syndrome

artículo científico publicado en 2020

Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome

artículo científico publicado en 2020

Role of POLE and POLD1 in familial cancer

scientific article published on 14 August 2020

SEOM clinical guidelines for hereditary cancer ⬇️

artículo científico publicado el 1 de agosto de 2011

SEOM clinical guidelines in Hereditary Breast and ovarian cancer

artículo científico publicado en 2015

SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)

scientific article published on 30 December 2019

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

artículo científico publicado en 2006

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

artículo científico publicado en 2008

The wide spectrum of POT1 gene variants correlates with multiple cancer types.

artículo científico publicado en 2017

Transcriptional characteristics of familial non-BRCA1/BRCA2 breast tumors.

artículo científico publicado en 2010

Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer

artículo científico publicado en 2015

[Current status of follow-up of the upper digestive tract in familial adenomatous polyposis]

artículo científico publicado en 2006

Lista de obras de

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).

Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

Caution Should Be Used When Interpreting Alterations Affecting the Exon 3 of the BRCA2 Gene in Breast/Ovarian Cancer Families

Clinical and Pathological Characterization of Lynch-Like Syndrome

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia

Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation

Cáncer de mama y ovario hereditario: prevención primaria y secundaria en mujeres portadoras de mutación en los genes BRCA1 y BRCA2

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing

Frequency of breast cancer with hereditary risk features in Spain: Analysis from GEICAM "El Álamo III" retrospective study.

Gene expression profiling integrated into network modelling reveals heterogeneity in the mechanisms of BRCA1 tumorigenesis

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain

Mammographic density and breast cancer in women from high risk families

Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in theMSH2 gene

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

Perception of breast cancer risk and surveillance behaviours of women with family history of breast cancer: A brief report on a Spanish cohort

Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain ⬇️

Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain.

Quality of colonoscopy is associated with adenoma detection and post-colonoscopy colorectal cancer prevention in Lynch syndrome

Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome

Role of POLE and POLD1 in familial cancer

SEOM clinical guidelines for hereditary cancer ⬇️

SEOM clinical guidelines in Hereditary Breast and ovarian cancer

SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

The wide spectrum of POT1 gene variants correlates with multiple cancer types.

Transcriptional characteristics of familial non-BRCA1/BRCA2 breast tumors.

Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer

[Current status of follow-up of the upper digestive tract in familial adenomatous polyposis]