This week we would like to introduce you to the work of Dr Fred Menko, a consultant clinical geneticist at the Department of Clinical Genetics at VU University Medical Center in Amsterdam, the Netherlands. Dr Menko is also editor-in-chief of the journal Familial Cancer.
Dr Menko maintains a registry of Dutch families with suspected BHD based on clinical symptoms, and as of 1st March 2013, 56 of these families had been shown to carry a pathogenic FLCN mutation (Menko et al., 2013d). This patient registry made possible one of the biggest cohort studies to date of 115 BHD patients, which found that BHD patients had a life time risk of 29% of developing pneumothorax and 16% of developing kidney cancer (Houweling et al., 2011). The majority of patients were referred to the registry through dermatology clinics, meaning that there is possibly some ascertainment bias in this cohort, and it is possible that the real risks of developing pneumothorax and kidney cancer are slightly higher.
In 2012, Dr Menko and colleagues described 9 families with familial multiple discoid fibromas (FMDF), that was characterised by the early onset of BHD-like skin-lesions with no pulmonary or renal involvement, and was not caused by mutations in the FLCN gene (Starink et al. 2012). Dr Menko and colleagues subsequently found that FMDF in these families was caused by a Dutch founder mutation in the FNIP1 gene (Menko et al., 2013a). More recently, Dr Menko also reported the case study of a man with BHD syndrome, who carried a de novo FLCN mutation, suggesting that although rare, some BHD patients may not have a family history of the disease (Menko et al., 2013c).
Dr Menko is the lead author on the BHD management guidelines published by the European BHD consortium (Menko et al., 2009) and led a panel discussion at the recent 5th BHD & 3rd HLRCC Symposium regarding the recommended screening and treatment guidelines for HLRCC, which will be published in due course. In addition to his work on BHD, Dr Menko has published extensively on other hereditary cancers and syndromes. He has also published a number of studies investigating how patients understand and interpret genetic results, and the psychological impact of hereditary diseases on patients, thereby informing best practices for genetic counsellors (Menko et al., 2013b, Vos et al., 2012, Vos et al., 2011).
To find out more about Dr Menko and his work, please watch our video interview (with its accompanying transcript and audio-only files).
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Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, & Menko FH (2011). Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. British journal of cancer, 105 (12), 1912-9 PMID: 22146830
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Menko FH, Classens T, Starink TM, Gijezen L, Houweling AC, van Mil S, Brinkhuizen T, van Doorn M, Leter EM, Jaspars EA, van Moorselaar RJA, van Steensel MAM, Postmus PE, Johannesma P, van Waesberghe J-H, Gille J, & Waisfisz Q (2013a). A truncating germline mutation in the gene encoding folliculin-interacting protein FNIP1 is associated with familial multiple discoid fibromas, a look-alike of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (1), 136-7 DOI: 10.1007/s10689-012-9528-4
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Menko FH, Aalfs CM, Henneman L, Stol Y, Wijdenes M, Otten E, Ploegmakers MM, Legemaate J, Smets EM, de Wert GM, & Tibben A (2013b). Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Familial cancer, 12 (2), 319-24 PMID: 23535968
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Menko FH, Johannesma PC, van Moorselaar RJ, Reinhard R, van Waesberghe JH, Thunnissen E, Houweling AC, Leter EM, Waisfisz Q, van Doorn MB, Starink TM, Postmus PE, Coull BJ, van Steensel MA, & Gille JJ (2013c). A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Familial cancer, 12 (3), 373-9 PMID: 23264078
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Menko FH, Johannesma PC, Gille JJP, Houweling AC, Leter EM, Jonker MA, Kon Y, Terlou A, Starink TM, Jaspars EH, Reinhard R, van Waesberghe JH, van Moorselaar RJA, Postmus PE, Aalfs C, de Jong MM, Bongers EMHF, Oldenburg RA, van Os TA, van Spaendonck-Zwarts KY, van Steensel MAM, & Waisfisz Q (2013d). An update of a Birt-Hogg-Dubé syndrome (BHD) database: evaluation of 89 families referred for suspected BHD. Familial cancer, 12 (3), 422 PMID: 24061860
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Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, & European BHD Consortium (2009). Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10 (12), 1199-206 PMID: 19959076
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Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, & Menko FH (2012). Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus. Journal of the American Academy of Dermatology, 66 (2), 259 e1-9 PMID: 21794948
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Vos J, Gómez-García E, Oosterwijk JC, Menko FH, Stoel RD, van Asperen CJ, Jansen AM, Stiggelbout AM, & Tibben A (2012). 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. Psycho-oncoloy, 21 (1), 29-42 PMID: 21072753
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Vos J, Stiggelbout AM, Oosterwijk J, Gomez-Garcia E, Menko F, Collee JM, van Asperen CJ, & Tibben A (2011). A counselee-oriented perspective on risk communication in genetic counseling: explaining the inaccuracy of the counselees’ risk perception shortly after BRCA1/2 test result disclosure. Genetics in medicine, 13 (9), 800-11 PMID: 21885922
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.