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List of works by Frederik J Hes

A novel keratin 13 variant in a four-generation family with white sponge nevus

scientific article published on 29 July 2017

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature

scientific article published on 01 January 2020

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

scientific article

Age and Tumor Volume Predict Growth of Carotid and Vagal Body Paragangliomas.

scientific article published on 31 July 2017

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

scientific article published on 12 October 2017

CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

scientific article published on 16 April 2018

Cancer Risks for PMS2-Associated Lynch Syndrome

scientific article published on 30 August 2018

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

scientific article published on 13 April 2015

Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.

scientific article published on 25 September 2008

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

scientific article published on 21 November 2017

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome

scientific article published on 01 February 2019

Clinical management of Von Hippelâ Lindau (VHL) disease ⬇️

scientific article published on November 1, 2001

Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers

scientific article published on 18 May 2018

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012

scientific article

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.

scientific article

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

scientific article

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

scientific article published on 15 June 2009

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

scientific article

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

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

scientific article published on 16 September 2019

Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.

scientific article published on 2 November 2016

Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort

scientific article published on 20 October 2009

Estimating the penetrance of pathogenic gene variants in families with missing pedigree information

scientific article published on 03 August 2018

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

scientific article published on 25 July 2017

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

scientific article published on 12 October 2017

Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.

scientific article published on 9 November 2017

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

scientific article

High Growth Rate of Pancreatic Ductal Adenocarcinoma inCDKN2A-p16-LeidenMutation Carriers

scientific article published on 10 July 2018

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations ⬇️

scientific article published on September 5, 2012

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

scientific article published on June 2015

Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.

scientific article published in January 2008

Increased Mortality in but Not in Pathogenic Variant Carriers

scientific article published on 17 January 2019

Infiltration of Lynch Colorectal Cancers by Activated Immune Cells Associates with Early Staging of the Primary Tumor and Absence of Lymph Node Metastases

scientific article published on 18 January 2012

Insertion of an SVA element, a nonautonomous retrotransposon, inPMS2intron 7 as a novel cause of lynch syndrome ⬇️

scientific article published on April 30, 2012

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps

scientific article published on 02 March 2019

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

scientific article

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

scientific article published on 15 December 2014

Mathematical Models for Tumor Growth and the Reduction of Overtreatment

scientific article published on 23 July 2018

Measurement of head and neck paragangliomas: is volumetric analysis worth the effort? A method comparison study.

scientific article published on 9 October 2015

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2

scientific article published on 29 July 2018

Molecular genetic aspects of Von Hippelâ Lindau (VHL) disease and criteria for DNA analysis in subjects at risk ⬇️

scientific article published on November 1, 2001

Multi-gene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

article

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

scientific article published on 06 February 2018

No difference in phenotype of the main Dutch SDHD founder mutations ⬇️

scientific article published on May 11, 2013

No evidence for increased mortality in SDHD variant carriers compared with the general population.

scientific article published on 11 March 2015

Normal Life Expectancy for Paraganglioma Patients: A 50-Year-Old Cohort Revisited ⬇️

scientific article published on November 1, 2011

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study

scientific article published on 26 June 2015

Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers

scientific article published on 8 July 2016

Quality of life is decreased in patients with paragangliomas ⬇️

scientific article published on April 15, 2013

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

scientific article published on 30 April 2018

Risks of less common cancers in proven mutation carriers with lynch syndrome

scientific article published on 22 October 2012

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

scientific article published on 12 January 2018

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

scientific article published on 10 August 2015

Surveillance for familial melanoma: recommendations from a national centre of expertise

scientific article published on 01 May 2019

Surveillance of Second-Degree Relatives from Melanoma Families with a CDKN2A Germline Mutation

scientific article published on 29 July 2013

Targetable gene fusions identified in radioactive iodine refractory advanced thyroid carcinoma

scientific article published on 01 April 2019

The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers

scientific article published on 14 May 2017

The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material

scientific article published on 15 October 2019

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 eye in von Hippel–Lindau disease. Long‐term follow‐up of screening and treatment: recommendations ⬇️

scientific article published on 01 June 1998

The phenotype of SDHB germline mutation carriers: a nationwide study

scientific article published on 10 May 2017

Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma

scientific article published on 06 September 2019

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

scientific article

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