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Clinical and genetic studies of Birt-Hogg-Dubé syndrome

Khoo, S K ; Giraud, S ; Kahnoski, K ; Chen, J ; Motorna, O ; Nickolov, R ; Binet, O ; Lambert, D ; Friedel, J ; Lévy, R ; Ferlicot, S ; Wolkenstein, P ; Hammel, P ; Bergerheim, U ; Hedblad, M-A ; Bradley, M ; Teh, B T ; Nordenskjöld, M ; Richard, S

Journal of medical genetics, 2002-12, Vol.39 (12), p.906-912 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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Título:
Clinical and genetic studies of Birt-Hogg-Dubé syndrome
Autor: Khoo, S K ; Giraud, S ; Kahnoski, K ; Chen, J ; Motorna, O ; Nickolov, R ; Binet, O ; Lambert, D ; Friedel, J ; Lévy, R ; Ferlicot, S ; Wolkenstein, P ; Hammel, P ; Bergerheim, U ; Hedblad, M-A ; Bradley, M ; Teh, B T ; Nordenskjöld, M ; Richard, S
Assuntos: Abnormalities ; Adult ; Age of Onset ; Aged ; Alleles ; Base Sequence ; BHD hot spot mutation ; Biological and medical sciences ; Birt-Hogg-Dubé syndrome ; Cancer ; colorectal neoplasia ; Dermatology ; DNA Mutational Analysis ; Estrone - genetics ; Exons - genetics ; Female ; Genes, Dominant - genetics ; Genetic aspects ; Genetic testing ; Germ-Line Mutation - genetics ; Haplotypes ; Haplotypes - genetics ; Heterozygote ; Humans ; Loss of Heterozygosity - genetics ; Male ; Medical imaging ; Medical sciences ; Medicin och hälsovetenskap ; Middle Aged ; Multiple abnormalities ; Mutation ; Neoplasms - genetics ; Neoplasms - pathology ; Neoplasms - physiopathology ; Original ; Pedigree ; Penetrance ; Pneumothorax ; Pneumothorax - genetics ; Pneumothorax - physiopathology ; Skin ; skin tumours ; Syndrome ; Syndromes ; Tumors ; Tumors of the skin and soft tissue. Premalignant lesions
É parte de: Journal of medical genetics, 2002-12, Vol.39 (12), p.906-912
Notas: ark:/67375/NVC-5X78WG11-L
href:jmedgenet-39-906.pdf
PMID:12471204
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local:0390906
Correspondence to:  Professor S Richard, Génétique Oncologique EPHE, Faculté de Médecine Paris-Sud, 94276 Le Kremlin Bicêtre, France;  stephane.richard@kb.u-psud.fr
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Descrição: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin tumours, renal tumours, and spontaneous pneumothorax. The gene has been mapped to chromosome 17p11.2 and recently identified, expressing a novel protein called folliculin. We report the clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects. Haplotype analysis of these families using BHD linked markers showed they did not share the same affected alleles, excluding common ancestry. Mutation analysis of the BHD gene identified two germline mutations on exon 11 (c.1733insC and c.1733delC) in three of four families as well as two of four sporadic cases. A novel somatic mutation, c.1732delTCinsAC, was detected in a BHD related chromophobe renal carcinoma. Our results confirmed the (C)8 tract in exon 11 as a mutational hot spot in BHD and should always be considered for future genetic testing. Our observation also indicated that the second hit (of Knudson’s two hit theory) in some BHD related tumours is in the form of somatic mutation rather than LOH. In a large French family in which eight affected subjects carry the c.1733delC mutation, a phenocopy who has multiple episodes of spontaneous pneumothorax was identified. A total of five mutation carriers (aged between 37 to 66) did not have any evidence of BHD features, suggesting either reduced penetrance or late age of onset of the disease. In addition, six out of eight affected subjects who have positive germline mutation have confirmed neoplastic colonic polyps, indicating that colorectal neoplasia is an associated feature of BHD in some families. Our studies have observed several interesting genetic features in BHD: (1) the poly (C) tract in exon 11 as a mutational hot spot; (2) the existence of phenocopy; (3) reduced penetrance or late age of onset of disease; (4) association with colorectal neoplasia in some families; and (5) somatic mutation instead of LOH as the second hit in BHD tumours.
Editor: London: BMJ Publishing Group Ltd
Idioma: Inglês

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Clinical and genetic studies of Birt-Hogg-Dubé syndrome

Khoo, S K ; Giraud, S ; Kahnoski, K ; Chen, J ; Motorna, O ; Nickolov, R ; Binet, O ; Lambert, D ; Friedel, J ; Lévy, R ; Ferlicot, S ; Wolkenstein, P ; Hammel, P ; Bergerheim, U ; Hedblad, M-A ; Bradley, M ; Teh, B T ; Nordenskjöld, M ; Richard, S

London: BMJ Publishing Group Ltd

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