Fred H Menko

Summary

Affiliation: VU University Medical Center
Country: The Netherlands

Publications

  1. pmc Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
    A C Houweling
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Br J Cancer 105:1912-9. 2011
  2. ncbi A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation
    Fred H Menko
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 12:373-9. 2013
  3. doi Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists
    Fred H Menko
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 12:319-24. 2013
  4. pmc A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
    Els Van Riel
    Department of Medical Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, The Netherlands
    Hered Cancer Clin Pract 8:7. 2010
  5. pmc Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 7:1. 2006
  6. ncbi Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes
    F H Menko
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Clin Genet 74:145-54. 2008
  7. ncbi A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer
    Fred H Menko
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 3:123-7. 2004
  8. ncbi [DNA-based diagnosis of hereditary tumour predisposition]
    F H Menko
    VU Medisch Centrum, afd Klinische Genetica, Polikliniek D, Postbus 7057, 1007 MB Amsterdam
    Ned Tijdschr Geneeskd 151:295-8. 2007
  9. ncbi Birt-Hogg-Dubé syndrome: diagnosis and management
    Fred H Menko
    Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands
    Lancet Oncol 10:1199-206. 2009
  10. doi Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result
    Joël Vos
    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Psychooncology 21:29-42. 2012

Detail Information

Publications39

  1. pmc Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
    A C Houweling
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Br J Cancer 105:1912-9. 2011
    ..The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD...
  2. ncbi A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation
    Fred H Menko
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 12:373-9. 2013
    ..The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies. ..
  3. doi Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists
    Fred H Menko
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 12:319-24. 2013
    ....
  4. pmc A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
    Els Van Riel
    Department of Medical Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, The Netherlands
    Hered Cancer Clin Pract 8:7. 2010
    ..The pathogenicity of this variant was unknown. We aim to elucidate the pathogenicity of this MLH1 variant in order to counsel these families adequately and to enable predictive testing in healthy at-risk relatives...
  5. pmc Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 7:1. 2006
    ..Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II)...
  6. ncbi Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes
    F H Menko
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Clin Genet 74:145-54. 2008
    ..The phenotypes are not restricted to severe infantile juvenile polyposis but include childhood-onset cases with macrocephaly, retardation, mild gastrointestinal symptoms and possibly early-onset colorectal cancer...
  7. ncbi A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer
    Fred H Menko
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 3:123-7. 2004
    ..Apparently, not only MLH1, MSH2 and PMS2, but also MSH6 is involved in the syndrome of childhood cancer and signs of neurofibromatosis type 1...
  8. ncbi [DNA-based diagnosis of hereditary tumour predisposition]
    F H Menko
    VU Medisch Centrum, afd Klinische Genetica, Polikliniek D, Postbus 7057, 1007 MB Amsterdam
    Ned Tijdschr Geneeskd 151:295-8. 2007
    ..Guidelines for the management of hereditary tumours have recently been issued, with criteria for referral to the specialised outpatient clinics...
  9. ncbi Birt-Hogg-Dubé syndrome: diagnosis and management
    Fred H Menko
    Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands
    Lancet Oncol 10:1199-206. 2009
    ..Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD...
  10. doi Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result
    Joël Vos
    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Psychooncology 21:29-42. 2012
    ..In this study, we aimed at quantifying the effect that perception has in genetic counseling for hereditary breast/ovarian cancer...
  11. doi The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters
    Joël Vos
    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Psychooncology 22:902-10. 2013
    ..g., surgery decisions), genetics-specific needs (e.g., feeling vulnerable/stigmatized), and existential concerns (e.g., meaning in life)...
  12. ncbi TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
    Marielle W G Ruijs
    Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands
    J Med Genet 47:421-8. 2010
    ..In addition to the risk for established LFS tumour types, TP53-positive individuals may also have an elevated risk for pancreatic and colon cancer...
  13. doi Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus
    Theo M Starink
    Birt Hogg Dubé Working Group, Department of Dermatology, VU University Medical Centre, Amsterdam, The Netherlands
    J Am Acad Dermatol 66:259.e1-9. 2012
    ..BHD is characterized by multiple fibrofolliculomas/trichodiscomas, lung cysts, pneumothorax, and renal cell cancer. Germline FLCN mutations can be detected in most but not all BHD families...
  14. ncbi Serum CA-125 in relation to adnexal dysplasia and cancer in women at hereditary high risk of ovarian cancer
    Brenda B J Hermsen
    Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands
    J Clin Oncol 25:1383-9. 2007
    ..The aim of this study was to investigate whether CA-125 concentrations are indicative of adnexal dysplasia and cancer in women at hereditary high risk of ovarian/tubal cancer...
  15. ncbi Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancer
    Brenda B J Hermsen
    Department of Obstetrics and Gynaecology, VU University Medical Centre, Amsterdam, The Netherlands
    Int J Cancer 119:1412-8. 2006
    ..The high frequency of (pre) malignant lesions in the adnexal tissue stresses further the importance of pBSO from the age of 40 onwards in women at hereditary high risk...
  16. ncbi [Spontaneous pneumothorax as the first manifestation of a hereditary condition with an increased renal cancer risk]
    Paul C Johannesma
    VU Medisch Centrum, afd Longziekten, Amsterdam, The Netherlands
    Ned Tijdschr Geneeskd 153:A581. 2009
    ..Recognition of BHD is important since carriers of the mutation can be offered surveillance for early detection and treatment of renal cancer...
  17. ncbi Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families
    Edward M Leter
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    J Invest Dermatol 128:45-9. 2008
    ..This study of the second largest cohort to date contributes to the expanding data on the variable phenotype and underlying gene defects in BHD...
  18. pmc Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
    Frederik J Hes
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    J Med Genet 51:55-60. 2014
    ..However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC risk variants play a role in patients with >10 adenomas...
  19. ncbi Exploring the short-term impact of DNA-testing in breast cancer patients: the counselees' perception matters, but the actual BRCA1/2 result does not
    Joël Vos
    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Patient Educ Couns 86:239-51. 2012
    ..These studies were criticized for their small range of predictors, mediators, outcomes and contextual factors. We studied the short-term impact of DNA-testing with an extended model...
  20. ncbi Histopathological characteristics of BRCA1- and BRCA2-associated intraperitoneal cancer: a clinic-based study
    Jurgen M J Piek
    Departments of Obstetrics and Gynaecology, VU University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 2:73-8. 2003
    ..This suggests, therefore, that serous tumors may be the only subtype related to a BRCA1 or BRCA2 mutation. Furthermore, fallopian tube carcinoma occurred more often in BRCA mutation carriers than in the reference population...
  21. pmc The effectiveness of a graphical presentation in addition to a frequency format in the context of familial breast cancer risk communication: a multicenter controlled trial
    Lidewij Henneman
    Department of Public and Occupational Health, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands
    BMC Med Inform Decis Mak 13:55. 2013
    ..We evaluated the effects of a graphical presentation in addition to a frequency format on counselees' understanding, psychological well-being, and preventive intentions...
  22. doi Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment
    Joël Vos
    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Psychooncology 22:1167-76. 2013
    ..e., level of fulfillment of NfC) regarding the specific domains of DNA test result, heredity and cancer. We also examined relationships of NfC-PC with coping styles and distress...
  23. pmc Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients
    Paul C Johannesma
    Department of Pulmonary Diseases, VU University Medical Center, PO Box 7057, 1007, MB Amsterdam, The Netherlands
    BMC Pediatr 14:171. 2014
    ..Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age...
  24. doi Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists
    Yrrah H Stol
    University of Amsterdam Centre for Society and Genomics, Nijmegen, Amsterdam, The Netherlands
    J Med Ethics 36:391-5. 2010
    ..An evaluation of these findings among professionals may lead to a more active approach in clinical practice...
  25. pmc Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling
    Caroline F Ockhuysen-Vermey
    Department of Public and Occupational Health, EMGO Institute, VU University Medical Center, Amsterdam, The Netherlands
    BMC Cancer 8:283. 2008
    ....
  26. ncbi Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
    Frans B L Hogervorst
    Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands
    Cancer Res 63:1449-53. 2003
    ..The MLPA test for BRCA1 ensures a sensitive and comprehensive high-throughput screening test for genomic rearrangement and can easily be implemented in the molecular analysis of BRCA1...
  27. ncbi Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation
    Marielle W G Ruijs
    Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands
    Fam Cancer 5:169-74. 2006
    ..Our findings suggest that this TP53 germline mutation is a causative factor in this family and that specific TP53 germline mutations can be associated with relatively late-onset common cancers...
  28. pmc The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype
    Marielle W G Ruijs
    Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands
    Hered Cancer Clin Pract 7:4. 2009
    ..The prevalence of CHEK2*1100delC differs between populations and has been found to be relatively high in the Netherlands. The question remains nevertheless whether CHEK2 germline mutations contribute to the Li-Fraumeni phenotype...
  29. ncbi Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918
    Fred H Menko
    Department of Clinical Genetics and Human Genetics, Vrije Universiteit Medical Center, 1007 MB Amsterdam, The Netherlands
    J Clin Endocrinol Metab 87:393-7. 2002
    ..Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed...
  30. ncbi Screening behavior of individuals at high risk for colorectal cancer
    Eveline M A Bleiker
    Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute Antoni van Leewenhoek Hospital, Amsterdam, The Netherlands
    Gastroenterology 128:280-7. 2005
    ..The aims of this study were to determine the degree of compliance and to identify the factors related significantly to noncompliance with periodic screening in this high-risk population...
  31. ncbi Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies
    Jan Werner Poley
    Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Cancer 109:2349-56. 2007
    ..Therefore, the authors studied the role of homozygosity or compound heterozygosity (CZ) for MMR gene defects in children with multiple primary tumors...
  32. ncbi Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
    Nicholas Hearle
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom
    Clin Cancer Res 12:3209-15. 2006
    ..Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited...
  33. ncbi Relative frequency and morphology of cancers in STK11 mutation carriers
    Wendy Lim
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Gastroenterology 126:1788-94. 2004
    ..There is limited data on the spectrum and risk for cancer associated with germline serine/threonine protein kinase 11 (STK11) mutations that cause Peutz-Jeghers syndrome (PJS)...
  34. ncbi Re: Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
    Petra van der Groep
    J Natl Cancer Inst 96:712-3; author reply 714. 2004
  35. ncbi Survival after adjuvant 5-FU treatment for stage III colon cancer in hereditary nonpolyposis colorectal cancer
    Wouter H de vos tot Nederveen Cappel
    Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
    Int J Cancer 109:468-71. 2004
    ..In our study, the 5-year survival of subjects treated with and without adjuvant 5-FU did not differ. Further studies are necessary to elucidate the role of MSI in 5-FU treatment of MSI-H tumours in HNPCC...
  36. ncbi The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC
    Andrea E de Jong
    Department of Gastroenterology, Leiden University Medical Center, Leiden, Netherlands
    Gastroenterology 126:42-8. 2004
    ..The aim of this study was to compare the risk of developing colorectal adenoma and carcinoma in HNPCC carriers and noncarriers (controls) and to compare the features of adenomas in both groups...
  37. ncbi High frequency of HIF-1alpha overexpression in BRCA1 related breast cancer
    Petra van der Groep
    Department of Pathology, University Medical Center, 3508 GA, Utrecht, The Netherlands
    Breast Cancer Res Treat 111:475-80. 2008
    ..This points to an important role of hypoxia and its key regulator HIF-1alpha in hereditary breast carcinogenesis...
  38. ncbi Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families
    Wouter H de vos tot Nederveen Cappel
    Department of Gastroenterology, Leiden University Medical Center Leiden, The Netherlands
    Dis Colon Rectum 45:1588-94. 2002
    ..The aim of this study was to examine the stage of the screening-detected tumors in relation to the surveillance interval and to assess the risk of developing colorectal cancer while on the program...