Search filters

List of works by Ignacio Blanco

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

scientific article

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

scientific article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism

scientific article published on 02 June 2011

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

Abnormal overexpression of mastocytes in skin biopsies of fibromyalgia patients

scientific article published on 30 April 2010

Actualización sobre indicaciones de búsqueda activa de casos y tratamiento con alfa-1 antitripsina por vía intravenosa en pacientes con enfermedad pulmonar obstructiva crónica asociada a déficit de alfa-1 antitripsina

Adaptación cultural y validación de la versión española de la Escala de Autoconcepto en BRCA en mujeres portadoras con alto riesgo de cáncer de mama y ovario hereditario

scientific article published on 03 December 2015

Allele-specific expression of APC in adenomatous polyposis families.

scientific article published on 29 April 2010

Alpha-1 antitrypsin deficiency PI*Z and PI*S gene frequency distribution using on maps of the world by an inverse distance weighting (IDW) multivariate interpolation method ⬇️

scientific article published on October 21, 2012

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency

scientific article published on 4 July 2015

Amylase, lipase, pancreatic isoamylase, and phospholipase A in diagnosis of acute pancreatitis

scientific article published on 01 August 1995

An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition.

scientific article published on 27 March 2013

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

article

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

scientific article

Analysis of intra-tumor heterogeneity in Neurofibromatosis Type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.

scientific article

Antiidiotypic response against murine monoclonal antibodies reactive with tumor-associated antigen TAG-72

scientific article published on 01 January 1997

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

scientific article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

scientific article

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

article

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

scientific article

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

scientific article published on 9 December 2015

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

scientific article published on 28 July 2017

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Capacidad predictiva del modelo BCRAPro frente al profesional de enfermería en la selección de candidatos a estudio genético de cáncer de mama u ovario hereditario

scientific article published on 04 November 2010

Characteristics of patients with familial adenomatous polyposis in Spain. First results of the Spanish Registry of Familial Adenomatous Polyposis

scientific article published on 13 May 2010

Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency

scientific article published on 12 December 2017

Chloroquine stabilizes pancreatic lysosomes and improves survival of mice with diet-induced acute pancreatitis

scientific article published on April 1997

Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study

scientific article published on 5 October 2010

Clinical impact of a gluten-free diet on health-related quality of life in seven fibromyalgia syndrome patients with associated celiac disease

scientific article

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

scientific article published on 10 October 2017

Colorectal cancer risk and theAPC D1822V variant

scientific article published on 01 October 2004

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Comprehensive Functional Assessment ofMLH1Variants of Unknown Significance

article published in 2012

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine

scientific article published on 25 March 2015

Comprehensive functional assessment of MLH1 variants of unknown significance

scientific article published on 12 July 2012

Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiency

scientific article published on 16 May 2014

Conformationally biased analogs of human C5a mediate changes in vascular permeability.

scientific article published in July 1996

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.

scientific article published on 10 February 2018

Conventional renal cancer in a patient with fumarate hydratase mutation

scientific article published on 31 January 2007

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 20 July 2020

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

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

article

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments

scientific article published on 16 May 2008

Detection of genetic alterations in hereditary colorectal cancer screening

scientific article

Diagnóstico y tratamiento del déficit de alfa-1-antitripsina

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

scientific article

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

scientific article published on 10 January 2018

Effect of one year of a gluten-free diet on the clinical evolution of irritable bowel syndrome plus fibromyalgia in patients with associated lymphocytic enteritis: a case-control study

scientific article

Estimating probability of germline mismatch repair mutations in colorectal cancer patients with microsatellite stable tumors

scientific article published on 10 March 2011

Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targeted screening

scientific article published in August 2006

Evidence for a link between TNFRSF11A and risk of breast cancer

article

Evidence of linkage to chromosomes 10p15.3-p15.1, 14q24.3-q31.1 and 9q33.3-q34.3 in non-syndromic colorectal cancer families

scientific article published on 10 August 2011

Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype

scientific article published in April 2014

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Factors associated with the evolution of lung function in patients with alpha-1 antitrypsin deficiency in the Spanish registry

scientific article published on 27 July 2011

Familial adenomatous polyposis

scientific article published in December 2006

Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome

article

Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.

scientific article published in April 2005

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

scientific article published on 14 June 2018

Functional Characterization of the Novel APC N1026S Variant Associated With Attenuated Familial Adenomatous Polyposis

scientific article published on 10 October 2007

Functional and structural analysis of C-terminal BRCA1 missense variants

scientific article

GALNT12 is not a major contributor of familial colorectal cancer type X.

scientific article

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

scientific article published on October 2009

Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome

scientific article published on 5 September 2012

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

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

scientific article published on 15 January 2009

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

scientific article

Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families

article

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer

scientific article

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

scientific article published on 27 February 2007

Guidelines for the clinical management of familial adenomatous polyposis (FAP).

scientific article published on 14 January 2008

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Health implications of alpha1-antitrypsin deficiency in Sub-Sahara African countries and their emigrants in Europe and the New World

scientific article

Hereditary familial polyposis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description.

scientific article

High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers

scientific article published on 8 October 2008

Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer

scientific article published on 17 July 2012

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.

scientific article

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

scientific article published on 15 July 2011

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

scientific article published on 28 November 2012

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

scientific article published on 3 June 2016

Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update

scientific article published on 12 July 2014

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer.

scientific article published on February 2000

Intron splice acceptor site polymorphism in the human MSH2 gene in ulcerative colitis

article

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

scientific article published on 28 February 2019

Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.

scientific article

Little evidence for association between the TGFBR1*6A variant and colorectal cancer: a family-based association study on non-syndromic family members from Australia and Spain.

scientific article

Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT).

scientific article

Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer.

scientific article published on 03 February 2014

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis

scientific article published on 24 November 2004

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

article

MLH1 methylation screening is effective in identifying epimutation carriers

scientific article

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study

scientific article

Mismatch repair gene analysis in Catalonian families with colorectal cancer

scientific article published in June 2002

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment

scientific article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Neurofibromatosis tipo 2: La historia de Lidia

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

scientific article

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

scientific article

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

scientific article published in June 2010

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

article

Novel methylation panel for the early detection of colorectal tumors in stool DNA.

scientific article published on July 2010

PI*S and PI*Z alpha 1-antitrypsin deficiency: estimated prevalence and number of deficient subjects in Spain

scientific article published in December 2004

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

scientific article

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article published on 16 April 2009

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

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

article

Peutz-Jeghers syndrome: a systematic review and recommendations for management

scientific article published on July 2010

Polymorphisms in Genes of Nucleotide and Base Excision Repair: Risk and Prognosis of Colorectal Cancer

article

Posttraumatic growth in cancer: reality or illusion?

scientific article published on 30 September 2008

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

scientific article published on 18 June 2014

Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.

scientific article published on 18 September 2009

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants

scientific article

Registro español de pacientes con déficit de alfa-1 antitripsina: evaluación de la base de datos y análisis de la población incluida

Remarkable prevalence of coeliac disease in patients with irritable bowel syndrome plus fibromyalgia in comparison with those with isolated irritable bowel syndrome: a case-finding study

scientific article published on January 2013

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

scientific article published on 31 January 2019

Respiratory disease registries in Spain: fundamentals and organization

scientific article published on 23 May 2011

Response to 'Remarkable prevalence of celiac disease in patients with irritable bowel syndrome plus fibromyalgia in comparison with those with isolated irritable bowel syndrome: a case-finding study' - authors' reply

scientific article published on 17 February 2014

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

scientific article published on 13 February 2013

Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men.

scientific article published in January 2013

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

scientific article published on 25 October 2006

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.

scientific article

Seroprevalence of SARS-CoV-2 IgG specific antibodies among healthcare workers in the Northern Metropolitan Area of Barcelona, Spain, after the first pandemic wave

scientific article published on 28 December 2020

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

scientific article

Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

scientific article published on 17 June 2016

Splenic hematoma in acute pancreatitis. Role of coagulation disorders

Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition.

scientific article

Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds

scientific article published on 26 July 2009

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

scientific article

Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

scientific article published on 14 September 2010

Telomere length and genetic anticipation in Lynch syndrome

scientific article

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 25 August 2009

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

scientific article published in May 2008

The impact of genetic counseling on knowledge and emotional responses in Spanish population with family history of breast cancer.

scientific article published on 30 November 2009

The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine

scientific article published in 2010

Transcriptional characteristics of familial non-BRCA1/BRCA2 breast tumors

scientific article

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients

scientific article published on 01 September 2007

Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification

scientific article

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

scientific article published on 11 February 2021

Uveal Melanoma andBRCA1/BRCA2Genes: A Relationship That Needs Further Investigation

article

Versión española de la Cancer Worry Scale (Escala de Preocupación por el Cáncer: adaptación cultural y análisis de la validez y la fiabilidad)

scientific article published on 18 June 2010

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

scientific article published on 25 April 2016

[Activity and subcellular distribution of lysosomal enzymes in acute pancreatitis induced by CDE diet in mice]

scientific article published on 01 March 1996

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

scientific article

[Physiopathology of acute pancreatitis]

scientific article published on 01 April 1996

[The treatment of a simple pancreatic pseudoaneurysm or one associated with hemosuccus pancreaticus]

scientific article published on 01 March 1992

¿Por qué las mujeres con cáncer de mama deben estar guapas y los hombres con cáncer de próstata pueden ir sin afeitar? oncología, disidencia y cultura hegemónica

Paulina is supported by:

About Paulina

Help