Lista de obras - Miguel de la Hoya - Dominio Público Uruguay

A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families

artículo científico publicado en 2011

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

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

artículo científico publicado en 2010

A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.

artículo científico publicado en 2017

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

artículo científico

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

artículo científico publicado en 2020

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

artículo científico publicado en 2019

Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects

artículo científico publicado en 2003

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

article

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

artículo científico publicado en 2013

Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Assessment of Topoisomerase II α status in breast cancer by quantitative PCR, gene expression microarrays, immunohistochemistry, and fluorescence in situ hybridization

artículo científico publicado en 2011

Association Between BRCA1 Mutations and Ratio of Female to Male Births in Offspring of Families With Breast Cancer, Ovarian Cancer, or Both

artículo científico publicado en 2003

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing

artículo científico publicado en 2002

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

artículo científico publicado en 2016

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

BRCA1 Alternative splicing landscape in breast tissue samples.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

BRCA2 gene mutations and coagulation-associated biomarkers

artículo científico publicado en 2016

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

artículo científico publicado en 2022

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

Cancer Risks Associated With and Pathogenic Variants

artículo científico publicado en 2022

Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer

artículo científico publicado en 2013

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

artículo científico publicado en 2013

Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers

artículo científico publicado en 2012

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

artículo científico publicado en 2017

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

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2020

Clustering of cancer-related mutations in a subset ofBRCA1alleles: A study in the Spanish population

article

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

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

artículo científico publicado en 2011

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 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

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

scientific article published on 05 August 2009

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

artículo científico publicado en 2014

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> Gene

artículo científico publicado en 2020

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

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Evidence for a link between TNFRSF11A and risk of breast cancer

article

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.

artículo científico publicado en 2013

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer.

artículo científico publicado en 2004

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Lack of Germ-line Mutations at the Specific BRCA1-IRIS Coding Sequence in 114 Spanish High-risk Breast/ovarian Families

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2014

Loss of heterozygosity analysis at theBRCAloci in tumor samples from patients with familial breast cancer

article

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.

artículo científico publicado en 2012

Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways.

artículo científico publicado en 2007

Molecular haplotyping of tandem single nucleotide polymorphisms by allele-specific PCR

artículo científico publicado en 2007

Mutant BRCA1 alleles transmission: different approaches and different biases

artículo científico publicado en 2005

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

artículo científico publicado en 2013

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

artículo científico publicado en 2016

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

No mutations in theXRCC2gene inBRCA1/2-negative high-risk breast cancer families

article

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

artículo científico publicado en 2003

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

artículo científico publicado en 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)

artículo científico publicado en 2011

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

article

Prevalence of germline mutations ofMLH1 andMSH2 in hereditary nonpolyposis colorectal cancer families from Spain

article

RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility

artículo científico publicado en 2019

Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer.

artículo científico publicado en 2010

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Response: Table 1

article by Amanda B. Spurdle et al published 31 August 2016 in Journal of the National Cancer Institute

Risk-reduction surgery in BRCA mutation carriers in a Spanish population: adherence and results.

artículo científico publicado en 2008

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases.

artículo científico publicado en 2012

Study of KRAS new predictive marker in a clinical laboratory

artículo científico publicado en 2012

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

article

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

artículo científico publicado en 2018

The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families

artículo científico publicado en 2005

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

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 breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

article

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

artículo científico publicado en 2013

The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations

artículo científico publicado en 2004

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.

artículo científico publicado en 2017

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

artículo científico publicado en 2019

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

Two founder BRCA2 mutations predispose to breast cancer in young women

scientific article published on 01 December 2009

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

artículo científico publicado en 2013

Lista de obras de Miguel de la Hoya

A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

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

A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.

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

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.

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

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects

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

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

Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)

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

Assessment of Topoisomerase II α status in breast cancer by quantitative PCR, gene expression microarrays, immunohistochemistry, and fluorescence in situ hybridization

Association Between BRCA1 Mutations and Ratio of Female to Male Births in Offspring of Families With Breast Cancer, Ovarian Cancer, or Both

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

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

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

BRCA1 Alternative splicing landscape in breast tissue samples.

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

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

BRCA2 gene mutations and coagulation-associated biomarkers

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Cancer Risks Associated With and Pathogenic Variants

Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

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

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Clustering of cancer-related mutations in a subset ofBRCA1alleles: A study in the Spanish population

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

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

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

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.

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

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

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

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

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

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> Gene

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?

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

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

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

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

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

Evidence for a link between TNFRSF11A and risk of breast cancer

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

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

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

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

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

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

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer.

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

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

Lack of Germ-line Mutations at the Specific BRCA1-IRIS Coding Sequence in 114 Spanish High-risk Breast/ovarian Families

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

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.

Loss of heterozygosity analysis at theBRCAloci in tumor samples from patients with familial breast cancer

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.

Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways.

Molecular haplotyping of tandem single nucleotide polymorphisms by allele-specific PCR

Mutant BRCA1 alleles transmission: different approaches and different biases