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Authors whose works are in public domain in at least one jurisdiction

List of works by Arjen R Mensenkamp

<i>TINF2</i> is a haploinsufficient tumor suppressor that limits telomere length

scientific article published on 01 December 2020

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

scientific article

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

scientific article

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice

scientific article published on 7 December 2017

Apolipoprotein E participates in the regulation of very low density lipoprotein-triglyceride secretion by the liver

scientific article published on 01 December 1999

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

scientific article published on 13 November 2019

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

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

BRCA Testing by Single-Molecule Molecular Inversion Probes

scientific article

Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

scientific article

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

scientific article

Calbindin-D28K dynamically controls TRPV5-mediated Ca2+ transport

scientific article

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.

scientific article published on 21 November 2017

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

scientific article published on 20 July 2016

Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma

scientific article published on 12 June 2014

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

scientific article

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

scientific article

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

scientific article published on 27 October 2016

Easy-to-use online referral test detects most patients with a high familial risk of colorectal cancer

scientific article published on 01 January 2014

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome

scientific article published on 08 June 2020

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

scientific article published on 17 June 2019

Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

scientific article published on 04 August 2019

Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval

scientific article published on 25 June 2015

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

scientific article

Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective.

scientific article published on 31 July 2014

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

scientific article published on 5 February 2014

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

scientific article published on 16 June 2020

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

scientific article published on 7 September 2016

Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.

scientific article published on 30 May 2013

Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomics.

scientific article

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

scientific article

Hepatic lipid accumulation, altered very low density lipoprotein formation and apolipoprotein E deposition in apolipoprotein E3-Leiden transgenic mice

scientific article published on 01 August 2000

Hepatic steatosis and very low density lipoprotein secretion: the involvement of apolipoprotein E ⬇️

scientific article published on December 1, 2001

Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

scientific article published in March 2012

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

scientific article

High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling

scientific article published on 4 November 2015

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

scientific article published on 19 January 2018

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

scientific article

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

scientific article

Inhibition of apolipoprotein B secretion by taurocholate is controlled by the N-terminal end of the protein in rat hepatoma McArdle-RH7777 cells

scientific article published on December 2003

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk

scientific article published on 15 December 2014

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

scientific article published on 27 March 2012

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

scientific article published on June 2014

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

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

scientific article

NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report.

scientific article published on 24 October 2014

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

scientific article published in May 2015

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

scientific article published on 21 October 2016

PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4

scientific journal article

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

SNP association study in PMS2-associated Lynch syndrome.

scientific article published on 17 November 2017

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors

scientific article published on 10 December 2013

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

scientific article published on 01 November 2018

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

scientific article

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 MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

scientific article published on 02 October 2013

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

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

scientific article published on 25 June 2015

The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis

scientific article published on 13 December 2013

The role of transhepatic bile salt flux in the control of hepatic secretion of triacylglycerol-rich lipoproteins in vivo in rodents

scientific article published in October 2002

The transport of triglycerides through the secretory pathway of hepatocytes is impaired in apolipoprotein E deficient mice

scientific article published in April 2004

Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing

scientific article

Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition

scientific article published in February 2020

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

scientific article

Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands

scientific article

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