List of works - Orland Diez

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

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

article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

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

article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

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

scientific article published in February 2013

Análisis del haplotipo en portadores de la mutación 6857delAA en el gen BRCA2 en 4 familias con cáncer de mama u ovario hereditario

scientific article published on 01 October 2004

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.

scientific article published on 16 March 2010

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?

scientific article

Mutant BRCA1 alleles transmission: different approaches and different biases

scientific article published in January 2005

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

scientific article

Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family

article

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

scientific article published on 01 November 2019

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.

scientific article published on 31 July 2013

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

BRCA2 splice site mutations in an Italian breast/ovarian cancer family.

scientific article

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

scientific article published on 11 January 2022

Clinical and pathological characteristics in patients with BRCA1/2-mutation associated with breast cancer (BC) with a long clinical follow-up.

scientific article published on 12 March 2000

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)

scientific article published on 02 July 2020

Molecular diagnosis of hereditary cancer

scientific article published on 01 July 2000

Shared heritability and functional enrichment across six solid cancers

Conditions for single-strand conformation polymorphism (SSCP) analysis of BRCA1 gene using an automated electrophoresis unit

scientific article published on 01 May 2001

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

scientific article published on 01 March 2020

Descripción de una nueva mutación germinal en el gen TP53 en una familia con síndrome de Li-Fraumeni. Asesoramiento clínico a los portadores sanos

scientific article published on 01 October 2002

Breast cancer susceptibility genes

scientific article published on 01 March 2006

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

article

Características clinicopatológicas y evolución clínica de pacientes con cáncer de mama y mutaciones en los genes BRCA1 o BRCA2

article

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

scientific article published on 14 December 2018

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

scientific article published on 15 July 2020

List of works by Orland Diez

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

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

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

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

Análisis del haplotipo en portadores de la mutación 6857delAA en el gen BRCA2 en 4 familias con cáncer de mama u ovario hereditario

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?

Mutant BRCA1 alleles transmission: different approaches and different biases

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

Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family

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

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

BRCA2 splice site mutations in an Italian breast/ovarian cancer family.

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

Clinical and pathological characteristics in patients with BRCA1/2-mutation associated with breast cancer (BC) with a long clinical follow-up.

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)

Molecular diagnosis of hereditary cancer

Shared heritability and functional enrichment across six solid cancers

Conditions for single-strand conformation polymorphism (SSCP) analysis of BRCA1 gene using an automated electrophoresis unit

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

Descripción de una nueva mutación germinal en el gen TP53 en una familia con síndrome de Li-Fraumeni. Asesoramiento clínico a los portadores sanos

Breast cancer susceptibility genes

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

Características clinicopatológicas y evolución clínica de pacientes con cáncer de mama y mutaciones en los genes BRCA1 o BRCA2

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

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