Lista de obras - Mercedes Durán - Dominio Público Uruguay

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2018

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

artículo científico publicado en 2020

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

artículo científico publicado en 2010

A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

scientific article published on 02 November 2009

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

artículo científico publicado en 2015

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

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Completeness of T, N, M and stage grouping for all cancers in the Mallorca Cancer Registry

artículo científico publicado en 2015

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays ⬇️

artículo científico publicado el 20 de marzo de 2013

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

artículo científico publicado en 2013

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis

scientific article published on 16 October 2011

Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants

artículo científico publicado en 2018

Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

artículo científico publicado en 2013

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer.

artículo científico publicado en 2013

Lynch syndrome diagnostics: decision-making process for germ-line testing ⬇️

artículo científico publicado el 1 de abril de 2012

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Screening for female fragile X premutation and full mutation carriers. A commentary on the work of Wildhagen et Al

artículo científico publicado en 1999

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 highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

artículo científico publicado en 2013

Two founder BRCA2 mutations predispose to breast cancer in young women

scientific article published on 01 December 2009

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer

scientific article published on 22 September 2018

[Molecular study of the BRCA1 and BRCA2 genes in 153 breast cancer families from Castilla and León (Spain): new nine unclassified variants identified]

artículo científico publicado en 2002

Lista de obras de Mercedes Durán

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.

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

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

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

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

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

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

Completeness of T, N, M and stage grouping for all cancers in the Mallorca Cancer Registry

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

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

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays ⬇️

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis

Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.

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

Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants

Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

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

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

Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer.

Lynch syndrome diagnostics: decision-making process for germ-line testing ⬇️

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Screening for female fragile X premutation and full mutation carriers. A commentary on the work of Wildhagen et Al

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

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

Two founder BRCA2 mutations predispose to breast cancer in young women

Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer

[Molecular study of the BRCA1 and BRCA2 genes in 153 breast cancer families from Castilla and León (Spain): new nine unclassified variants identified]