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List of works by Rob B van der Luijt

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

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

scientific article

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

scientific article published on 06 February 2009

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients

scientific article published on 01 July 2005

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

scientific article published on 29 June 2009

Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer

scientific article published on 30 November 2012

Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease

scientific article published on 01 December 2005

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

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

scientific article

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

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

scientific article published on 13 November 2019

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

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article published on 31 December 2014

Attitude towards pre-implantation genetic diagnosis for hereditary cancer.

scientific article published on 30 July 2009

Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918

scientific article published on 01 January 2002

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

scientific article

Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial

scientific article

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

scientific article published on 18 May 2011

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

scientific article

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.

scientific article published on 2 November 2011

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

scientific article published on 05 August 2009

Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis

scientific article published on 15 December 2015

Compliance with periodic surveillance for Von-Hippel-Lindau disease

scientific article published on 01 June 2011

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

scientific article

Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma

scientific article published on 26 February 2016

Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening?

scientific article published in December 2003

Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial

scientific article published on 23 April 2015

Factors predicting outcome of total thyroidectomy in young patients with multiple endocrine neoplasia type 2: a nationwide long-term follow-up study

scientific article

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

scientific article published on 16 June 2020

Genetic analysis of von Hippel-Lindau disease.

scientific article

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

scientific article published on 22 May 2007

HIF-1α overexpression in ductal carcinoma in situ of the breast in BRCA1 and BRCA2 mutation carriers

scientific article

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients

scientific article

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion

scientific article

Madelung deformity in a girl with a novel and de novo mutation in theGNASgene

scientific article published on 09 September 2011

MicroRNA related polymorphisms and breast cancer risk

scientific article

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations

scholarly article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

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

scientific article published on 15 February 2018

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

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

scientific article

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors

scientific article published on 11 May 2012

Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype

scientific article published on June 2012

Quality and quantity of DNA isolated from frozen urine in population-based research

scientific article published on May 2002

Quality of NAT2 genotyping with restriction fragment length polymorphism using DNA isolated from frozen urine

scientific article published on 01 August 2002

Rapid detection of VHL exon deletions using real-time quantitative PCR.

scientific article published in January 2005

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

scientific article published on 17 August 2014

The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade

scientific article published in June 2002

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

scientific article published on 10 May 2017

The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

scientific article published on 26 February 2018

Tissue selectivity in multiple endocrine neoplasia type 1-associated tumorigenesis.

scientific article published on 04 August 2009

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

scientific article published on 11 July 2022

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

scientific article

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