Lista de obras - S Gutiérrez-Enríquez - Dominio Público Uruguay

A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

artículo científico publicado en 2018

A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA.

artículo científico publicado en 2004

A cytogenetic follow-up study of thyroid cancer patients treated with 131I.

artículo científico publicado en 1995

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

artículo científico publicado en 2009

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

artículo científico publicado en 2008

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

artículo científico

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

scientific article published on 14 December 2018

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

artículo científico publicado en 2013

Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism

artículo científico publicado en 2015

Application of the single cell gel electrophoresis (SCGE) assay to the detection of DNA damage induced by 131I treatment in hyperthyroidism patients

scientific article published on 01 January 1998

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

scientific article published on 23 August 2019

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

artículo científico publicado en 2019

BRCA2 splice site mutations in an Italian breast/ovarian cancer family.

artículo científico publicado en 2009

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

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

artículo científico publicado en 2011

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

artículo científico

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

artículo científico publicado en 2018

Clinical consequences of BRCA2 hypomorphism

publication published on 09 September 2021

Comparative study of chromosome aberrations induced with aphidicolin in women affected by breast cancer and cervix uterine cancer

artículo científico publicado en 1997

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

artículo científico publicado en 2014

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

artículo científico publicado en 2014

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

article

Cytogenetic damage after 131-iodine treatment for hyperthyroidism and thyroid cancer. A study using the micronucleus test

artículo científico publicado en 1999

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

artículo científico publicado en 2018

Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

article

Follow up study of chromosome aberrations in lymphocytes in hospital workers occupationally exposed to low levels of ionizing radiation

artículo científico publicado en 1995

Functional consequences of ATM sequence variants for chromosomal radiosensitivity

artículo científico publicado en 2004

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

artículo científico publicado en 2006

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

artículo científico publicado en 2011

Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics

scientific article published on 07 January 2016

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing

article

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

Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

artículo científico publicado en 2019

Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients

artículo científico publicado en 2016

Individual patient data meta-analysis shows no association between the SNP rs1800469 in TGFB and late radiotherapy toxicity.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers.

artículo científico publicado en 2010

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Micronuclei induction by 131I exposure: study in hyperthyroidism patients

scientific article published on 01 January 1997

Mitotic delay in lymphocytes from BRCA1 heterozygotes unable to reduce the radiation-induced chromosomal damage

artículo científico publicado en 2008

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

article

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.

artículo científico publicado en 2013

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.

artículo científico publicado en 2013

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

artículo científico publicado en 2016

Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer

artículo científico publicado en 2011

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

scientific article published on 15 April 2019

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA mutated breast cancer.

artículo científico publicado en 2018

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

article

Radiogenomics: radiobiology enters the era of big data and team science

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

scientific article published on 24 November 2018

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families

artículo científico publicado en 2010

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

article

Telomeric association in women with breast and uterine cervix cancer

artículo científico publicado en 1997

The alkaline single-cell gel electrophoresis (SCGE) assay applied to the analysis of radiation-induced DNA damage in thyroid cancer patients treated with 131I

scientific article published on 01 March 1998

The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

artículo científico publicado en 2008

[Breast cancer susceptibility genes]

artículo científico publicado en 2006

Lista de obras de S Gutiérrez-Enríquez

A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA.

A cytogenetic follow-up study of thyroid cancer patients treated with 131I.

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

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

Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism

Application of the single cell gel electrophoresis (SCGE) assay to the detection of DNA damage induced by 131I treatment in hyperthyroidism patients

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

BRCA2 splice site mutations in an Italian breast/ovarian cancer family.

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

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

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

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

Clinical consequences of BRCA2 hypomorphism

Comparative study of chromosome aberrations induced with aphidicolin in women affected by breast cancer and cervix uterine cancer

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Cytogenetic damage after 131-iodine treatment for hyperthyroidism and thyroid cancer. A study using the micronucleus test

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

Follow up study of chromosome aberrations in lymphocytes in hospital workers occupationally exposed to low levels of ionizing radiation

Functional consequences of ATM sequence variants for chromosomal radiosensitivity

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

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing

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

Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients

Individual patient data meta-analysis shows no association between the SNP rs1800469 in TGFB and late radiotherapy toxicity.

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

Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Micronuclei induction by 131I exposure: study in hyperthyroidism patients

Mitotic delay in lymphocytes from BRCA1 heterozygotes unable to reduce the radiation-induced chromosomal damage

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA mutated breast cancer.

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

Radiogenomics: radiobiology enters the era of big data and team science

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

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Telomeric association in women with breast and uterine cervix cancer

The alkaline single-cell gel electrophoresis (SCGE) assay applied to the analysis of radiation-induced DNA damage in thyroid cancer patients treated with 131I

The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

[Breast cancer susceptibility genes]