List of works - Orland Diez

Genetic counseling program in familial breast cancer: Analysis of its effectiveness, cost and cost-effectiveness ratio

article

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

scientific article

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

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

scientific article published on 7 October 2013

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

scientific article published on 28 October 2013

BRCA2 germ-line mutations in Spanish male breast cancer patients

article

BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families

article

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

article

Re: Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer

scientific article published on May 2004

Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population

article

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

article

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

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

scientific article published on 05 December 2012

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

scientific article

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

scientific article published on 27 April 2013

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

scientific article published on 01 June 2003

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

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

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

scientific article published on 07 January 2016

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

scientific article published on 25 April 2015

The accumulation of specific amplifications characterizes two different genomic pathways of evolution of familial breast tumors

scientific article published on 01 December 2005

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

scientific article published on 21 March 2012

Polymorphisms in TRAIL receptor genes and risk of breast cancer in Spanish women.

scientific article published in January 2007

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

article

BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families

article

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

scientific article

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.

scientific article

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

scientific article

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

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

scientific article published on 13 July 2010

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

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

scientific article published in May 2015

Composition influence on pulmonary delivery of rifampicin liposomes

scientific article published on 27 November 2012

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

article

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

scientific article

Evidence for a link between TNFRSF11A and risk of breast cancer

article

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

article

Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families

article

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

scientific article published on 01 March 2015

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

scientific article

Differences in phenotypic expression of a new BRCA1 mutation in identical twins

scientific article published in The Lancet

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

scientific article published on 29 March 2011

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

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

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

scientific article published on 03 July 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

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

scientific article published on 07 January 2020

Caution Should Be Used When Interpreting Alterations Affecting the Exon 3 of the BRCA2 Gene in Breast/Ovarian Cancer Families

article

Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up?

scientific article published in September 2011

List of works by Orland Diez

Genetic counseling program in familial breast cancer: Analysis of its effectiveness, cost and cost-effectiveness ratio

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

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

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

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

BRCA2 germ-line mutations in Spanish male breast cancer patients

BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families

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

Re: Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer

Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population

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

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

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

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

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

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

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

Shared heritability and functional enrichment across six solid cancers

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

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

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

The accumulation of specific amplifications characterizes two different genomic pathways of evolution of familial breast tumors

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

Polymorphisms in TRAIL receptor genes and risk of breast cancer in Spanish women.

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

BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

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.

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

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

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

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

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

Composition influence on pulmonary delivery of rifampicin liposomes

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

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

Evidence for a link between TNFRSF11A and risk of breast cancer

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

Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families

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

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

Differences in phenotypic expression of a new BRCA1 mutation in identical twins

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

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

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

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

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

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

Caution Should Be Used When Interpreting Alterations Affecting the Exon 3 of the BRCA2 Gene in Breast/Ovarian Cancer Families

Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up?