F J Hes

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. pmc Case of spontaneous regression of carotid body tumor in a SDHD mutant: a discussion on potential mechanisms based on a review of the literature
    Sebastiaan Hammer
    Department of Radiology, Leiden University Medical Center, Albinusdreef 2, Leiden, ZA 2333, The Netherlands
    World J Surg Oncol 10:218. 2012
  2. pmc A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C
    Jennifer M J Schreinemakers
    Dept of Surgery, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, The Netherlands
    World J Surg Oncol 5:112. 2007
  3. pmc Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations
    Maartje Nielsen
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    BMC Med Genet 8:42. 2007
  4. pmc Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
    Maartje Nielsen
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    BMC Cancer 9:184. 2009
  5. pmc Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
    Eddy H J van Roon
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    BMC Cancer 10:180. 2010
  6. pmc Von hippel-lindau disease
    Frederik J Hes
    Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden
    Hered Cancer Clin Pract 3:171-8. 2005
  7. doi request reprint Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease
    Frederik J Hes
    Center for Clinical and Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Med Genet A 149:2231-5. 2009
  8. doi request reprint Where genetics and pathology meet: mulibrey nanism
    Frederik J Hes
    Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    J Pathol 218:143-5. 2009
  9. pmc Lynch syndrome: still not a familiar picture
    Frederik J Hes
    Center for Human and Clinical Genetics CHKG, Department of Clinical Genetics, Leiden University Medical Center LUMC, RC Leiden, The Netherlands
    World J Surg Oncol 6:21. 2008
  10. pmc Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
    Frederik J Hes
    Department of Clinical Genetics, Leiden University Medical Center, POBox 9600, 2300 RC Leiden, The Netherlands
    BMC Med Genet 11:92. 2010

Detail Information

Publications41

  1. pmc Case of spontaneous regression of carotid body tumor in a SDHD mutant: a discussion on potential mechanisms based on a review of the literature
    Sebastiaan Hammer
    Department of Radiology, Leiden University Medical Center, Albinusdreef 2, Leiden, ZA 2333, The Netherlands
    World J Surg Oncol 10:218. 2012
    ..Head and neck paragangliomas are tumors associated with the parasympathetic nerve system and typically show an indolent growth pattern. Therefore a conservative management strategy is considered in selected cases...
  2. pmc A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C
    Jennifer M J Schreinemakers
    Dept of Surgery, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, The Netherlands
    World J Surg Oncol 5:112. 2007
    ..It proved to be the first manifestation of bilateral pheochromocytomas. The family history may indicate the diagnosis, but only identification of a germ line mutation in the DNA of a patient will confirm carriership...
  3. pmc Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations
    Maartje Nielsen
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    BMC Med Genet 8:42. 2007
    ..5% is a heterozygous MUTYH mutation carrier. Children of MAP patients have an increased risk of inheriting two MUTYH mutations compared to the general population, implicating an increased risk for developing CRC...
  4. pmc Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
    Maartje Nielsen
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    BMC Cancer 9:184. 2009
    ....
  5. pmc Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
    Eddy H J van Roon
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    BMC Cancer 10:180. 2010
    ..As this type of colon cancer is associated with high ages, young patients bearing this type of malignancy are rare and could provide additional insight into the etiology of sporadic MSI-H colon cancer...
  6. pmc Von hippel-lindau disease
    Frederik J Hes
    Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden
    Hered Cancer Clin Pract 3:171-8. 2005
    ..A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination...
  7. doi request reprint Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease
    Frederik J Hes
    Center for Clinical and Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Med Genet A 149:2231-5. 2009
    ..The identification of multiple causes in a single patient may complicate explaining the disorder and genetic counseling...
  8. doi request reprint Where genetics and pathology meet: mulibrey nanism
    Frederik J Hes
    Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    J Pathol 218:143-5. 2009
    ..Insights into the pathology of rare genetic syndromes may have important lessons for our understanding of much commoner conditions...
  9. pmc Lynch syndrome: still not a familiar picture
    Frederik J Hes
    Center for Human and Clinical Genetics CHKG, Department of Clinical Genetics, Leiden University Medical Center LUMC, RC Leiden, The Netherlands
    World J Surg Oncol 6:21. 2008
    ..Germ line mutations in mismatch repair genes underlie Lynch syndrome and predispose carriers for colorectal carcinoma and malignancies in many other organ systems...
  10. pmc Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
    Frederik J Hes
    Department of Clinical Genetics, Leiden University Medical Center, POBox 9600, 2300 RC Leiden, The Netherlands
    BMC Med Genet 11:92. 2010
    ..We evaluate the phenotype and penetrance of a germline SDHB mutation in a large and clinically well-characterized paraganglioma family...
  11. ncbi request reprint Somatic APC mosaicism: an underestimated cause of polyposis coli
    F J Hes
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Gut 57:71-6. 2008
    ..The patient with 10 or more adenomas in the colon poses a diagnostic challenge. Beside germline mutations in the APC and MUTYH genes, only four cases of mosaic APC mutations have been reported...
  12. ncbi request reprint [From gene to disease; Von Hippel-Lindau disease]
    F J Hes
    Leids Universitair Medisch Centrum, Klinisch Genetisch Centrum Leiden, Postbus 9600, 2300 RC Leiden
    Ned Tijdschr Geneeskd 146:1364-7. 2002
    ..VHL associated tumours are richly vascularised. This is consistent with the involvement of the VHL protein in multiprotein complexes that degrade hypoxia-inducible factors dependent on cellular oxygen levels...
  13. ncbi request reprint Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis
    M Nielsen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Clin Genet 71:427-33. 2007
    ....
  14. doi request reprint Recommendations to improve identification of hereditary and familial colorectal cancer in Europe
    H F A Vasen
    Department of Gastroenterology, Leiden University Medical Centre, 2333 AA Leiden, The Netherlands
    Fam Cancer 9:109-15. 2010
    ..The cost-effectiveness of this approach should be further evaluated. All countries with a CRC population screening program should obtain a full family history as part of patient assessment...
  15. doi request reprint Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    H F A Vasen
    Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands
    Gut 57:704-13. 2008
    ..The guidelines described herein may be helpful in the appropriate management of FAP families. In order to improve the care of these families further, prospective controlled studies should be undertaken...
  16. ncbi request reprint The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family
    Marjo van Puijenbroek
    Department of Pathology, Leiden University Medical Center, Building L1Q, P O Box 9600, 2300 RC Leiden, The Netherlands
    Fam Cancer 6:43-51. 2007
    ..In conclusion, these data would support the notion that abrogation of both MSH6 DNA mismatch repair and base repair might be mutually exclusive in humans...
  17. doi request reprint 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
    Marjo van Puijenbroek
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    Clin Cancer Res 14:139-42. 2008
    ..The tissues were tested for somatic KRAS2 mutations and for three Dutch hotspot MUTYH germ line mutations (p.Tyr165Cys, p.Gly382Asp, and p.Pro391Leu) by sequencing analysis...
  18. doi request reprint Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis?
    M H Nieuwenhuis
    The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands
    Gut 61:734-8. 2012
    ..We evaluated the natural history of the disease and the outcome of colorectal surveillance and management...
  19. doi request reprint High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas
    A Middeldorp
    Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands
    J Pathol 216:25-31. 2008
    ..The results presented in this study suggest that copy-neutral LOH is an important mechanism in the tumorigenesis of MAP...
  20. doi request reprint Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort
    Anneke Middeldorp
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    Cancer Epidemiol Biomarkers Prev 18:3062-7. 2009
    ..Overall, our results suggest that clustering of low-risk variants may explain part of the excess risk in CRC families...
  21. doi request reprint Is colorectal surveillance indicated in patients with PTEN mutations?
    M H Nieuwenhuis
    Netherlands Foundation for the Detection of Hereditary Tumors, Leiden, The Netherlands
    Colorectal Dis 14:e562-6. 2012
    ..We assessed the lifetime risk of benign and malignant gastrointestinal lesions in patients with a proven PTEN mutation...
  22. pmc Duodenal carcinoma in MUTYH-associated polyposis
    M Nielsen
    Centre for Human and Clinical Genetics, LUMC, Leiden, The Netherlands
    J Clin Pathol 59:1212-5. 2006
    ..Studies in larger series of MAP patients are needed to investigate the risk of upper-gastro-intestinal malignancies and to determine further guidelines for endoscopical surveillance...
  23. ncbi request reprint [From gene to disease; MutYH-associated polyposis coli (MAP)]
    M Nielsen
    Centrum voor Humane en Klinische Genetica, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden
    Ned Tijdschr Geneeskd 149:2970-2. 2005
    ..MutYH polyposis differs from familial adenomatous polyposis coli in its mode of transmission, later age of onset, a less florid form of polyposis, and fewer extra colonic manifestations...
  24. doi request reprint MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers
    Noel F C C de Miranda
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    J Pathol 219:69-76. 2009
    ..Our data provide additional evidence for a link between DNA repair deficiencies and altered HLA class I phenotypes in colorectal cancer...
  25. ncbi request reprint Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review
    Maartje Nielsen
    Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Hum Genet 15:1034-42. 2007
    ..While most total and partial APC deletions lead to a classic FAP phenotype, specific (in-frame) deletions may lead to an attenuated polyposis phenotype...
  26. pmc Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients
    Maartje Nielsen
    Department of Clinical Genetics, Leiden University Medical Center, The Netherlands
    J Natl Cancer Inst 102:1724-30. 2010
    ....
  27. doi request reprint Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients
    Heleen M van der Klift
    Department of Human Genetics, Leiden University Medical Centre, Albinusdreef 2, Leiden, The Netherlands
    Hum Mutat 31:578-87. 2010
    ..Four of these (21%) are lying in the region with frequent sequence transfer and are missed or called incorrectly as homozygous with several PSV-based mutation detection methods...
  28. doi request reprint SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Lancet Oncol 11:366-72. 2010
    ..We aimed to identify SDHAF2 mutation carriers, assess the clinical genetic significance of SDHAF2, and describe the associated clinical phenotype...
  29. doi request reprint Introduction to molecular and clinical genetics of colorectal cancer syndromes
    Carli M J Tops
    Centre for Human and Clinical Genetics, LUMC, Leiden, P O Box 9600, S06, 2300 RC Leiden, The Netherlands
    Best Pract Res Clin Gastroenterol 23:127-46. 2009
    ..We focus on the three most common hereditary colorectal cancer syndromes (CCS): Lynch syndrome, familial adenomatous polyposis and MUTYH-associated polyposis...
  30. doi request reprint Deep sequencing to reveal new variants in pooled DNA samples
    Astrid A Out
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 30:1703-12. 2009
    ..We describe custom bioinformatics and statistics to optimize detection of rare variants and to estimate required sequencing depth. Our results provide directions for designing high-throughput analyses of candidate genes...
  31. doi request reprint Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis
    Maartje Nielsen
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Gastroenterology 136:471-6. 2009
    ..Our goal was to establish correlations between genotypes and colorectal phenotype of patients with MAP...
  32. doi request reprint Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Endocr Relat Cancer 16:929-37. 2009
    ..Gene deletions of SDHD and SDHC represent a substantial proportion of all mutations, and must be considered in paraganglioma patients shown to be negative for mutations by sequencing...
  33. doi request reprint Leiden Open Variation Database of the MUTYH gene
    Astrid A Out
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 31:1205-15. 2010
    ..This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance...
  34. doi request reprint Quality of life is decreased in patients with paragangliomas
    L T van Hulsteijn
    Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Endocrinol 168:689-97. 2013
    ..Germline mutations in succinate dehydrogenase (SDH) genes predispose carriers for developing paragangliomas, and studies on their quality of life (QoL) are scarce...
  35. ncbi request reprint Clinical review 155: Pheochromocytoma in Von Hippel-Lindau disease
    Frederik J Hes
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    J Clin Endocrinol Metab 88:969-74. 2003
  36. doi request reprint Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome
    Juul T Wijnen
    Department of Human Genetics, Leiden University Medical Centre, The Netherlands
    Gastroenterology 136:131-7. 2009
    ..To assess whether these influence CRC risk in the Lynch syndrome, we genotyped these variants in a large series of proven mutation carriers...
  37. pmc Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
    H F A Vasen
    Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
    J Med Genet 44:353-62. 2007
    ..The guidelines described in this manuscript may be helpful for the appropriate management of families with Lynch syndrome. Prospective controlled studies should be undertaken to improve further the care of these families...
  38. doi request reprint Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas
    Marjo van Puijenbroek
    Department of Pathology, Leiden University Medical Center, Building L1Q, P O Box 9600, 2300 RC, Leiden, The Netherlands
    Fam Cancer 7:319-30. 2008
    ..The approach we describe here shows to be an excellent way to study genome-wide cnLOH in archival mismatch repair deficient tumors...
  39. pmc Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families
    Alberto M Pereira
    Department of Endocrinology and Metabolism and Center for Human, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 95:338-42. 2010
    ..Germline PRKAR1A mutations cause CNC and only rarely isolated PPNAD...
  40. ncbi request reprint MUTYH and the mismatch repair system: partners in crime?
    Renée C Niessen
    Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Genet 119:206-11. 2006
    ..002) and the published controls (P = 0.001). These results warrant further study to test the hypothesis of mutations in MMR genes (in particular MSH6) and MUTYH acting together to increase cancer risk...
  41. ncbi request reprint Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome
    Kevin Martens
    Laboratory for Biochemical Neuro endocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Gent, Belgium
    Eur J Hum Genet 15:1029-33. 2007
    ..Finally, we have investigated the frequency of both deletions using a random Belgian cohort. Given the global occurrence, HCS should be considered in the differential diagnosis of neonatal hypotonia...