List of works - Lucía Pérez-Cabornero

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

scientific article published on 9 March 2010

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

scientific article published on 26 February 2009

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

scientific article published on 2 December 2016

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

Characterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome Phenotype

article

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

scientific article

Erratum to: Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial

scientific article published on 01 September 2017

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

scientific article published on March 20, 2013

Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.

scientific article

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

scientific article

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

scientific article

Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.

scientific article published on January 2007

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

scientific article published in March 2013

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

scientific article published on April 1, 2012

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

article

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas

scientific article published on 12 September 2019

Two founder BRCA2 mutations predispose to breast cancer in young women

scientific article published on 01 December 2009

List of works by Lucía Pérez-Cabornero

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.

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

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

Characterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome Phenotype

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

Erratum to: Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial

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

Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.

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

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

Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.

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

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

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas

Two founder BRCA2 mutations predispose to breast cancer in young women