TY - JOUR
T1 - Association between Birt Hogg Dubé syndrome and cancer predisposition
AU - Palmirotta, Raffaele
AU - Savonarola, Annalisa
AU - Ludovici, Giorgia
AU - Donah, Pietro
AU - Cavaliere, Francesco
AU - De Marchis, Maria Laura
AU - Ferroni, Patrizia
AU - Guadagni, Fiorella
PY - 2010/3
Y1 - 2010/3
N2 - The Birt Hogg Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis predisposing patients to developing fibrofolliculoma, trichodiscoma and acrochordon. The syndrome is caused by germline mutations in the folliculin (FLCN) gene, encoding the folliculin tumor-suppressor protein. Numerous mutations have been described in the FLCN gene, the most frequent occurring within a C8 tract of exon 11. This hypermutability is probably due to a slippage in DNA polymerase during replication, resulting in gains/losses of repeat units, causing cancer predisposition. The main phenotypic manifestations related to this disease are lung cysts, leading to pneumothorax, and a 7-fold increased risk for renal neoplasia, although other neoplastic manifestations have been described in BHD-affected individuals. Of particular interest is the often reported genotype/phenotype correlation between FLCN mutations and risk of colon or breast cancer. This paper describes our current knowledge on the association between BHD and cancer predisposition and briefly summarizes our experience in this field.
AB - The Birt Hogg Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis predisposing patients to developing fibrofolliculoma, trichodiscoma and acrochordon. The syndrome is caused by germline mutations in the folliculin (FLCN) gene, encoding the folliculin tumor-suppressor protein. Numerous mutations have been described in the FLCN gene, the most frequent occurring within a C8 tract of exon 11. This hypermutability is probably due to a slippage in DNA polymerase during replication, resulting in gains/losses of repeat units, causing cancer predisposition. The main phenotypic manifestations related to this disease are lung cysts, leading to pneumothorax, and a 7-fold increased risk for renal neoplasia, although other neoplastic manifestations have been described in BHD-affected individuals. Of particular interest is the often reported genotype/phenotype correlation between FLCN mutations and risk of colon or breast cancer. This paper describes our current knowledge on the association between BHD and cancer predisposition and briefly summarizes our experience in this field.
KW - Birt Hogg Dubé syndrome
KW - Cancer predisposition
KW - Folliculin
KW - Review
UR - http://www.scopus.com/inward/record.url?scp=77951048448&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77951048448&partnerID=8YFLogxK
M3 - Article
C2 - 20392993
AN - SCOPUS:77951048448
VL - 30
SP - 751
EP - 758
JO - Anticancer Research
JF - Anticancer Research
SN - 0250-7005
IS - 3
ER -