List of works - Mar Infante

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

scientific article published on 29 November 2018

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

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

scientific article published on May 2014

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

scientific article

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.

scientific article

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

article

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

scientific article published on 13 July 2018

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

scientific article

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

scientific article

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

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

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

scientific article

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

scientific article published on 15 May 2018

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

scientific article

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

scientific article published on 03 August 2020

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

scientific article published on January 2007

High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis

scientific article published on 18 December 2003

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

scientific article published in March 2013

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations

scientific article published on 01 April 2003

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

scientific article

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

scientific article published on 8 August 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

List of works by Mar Infante

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

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.

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

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

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

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

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

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

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

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

High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis

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

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

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