Pathology

 germline mutation of FLCL in Birt-Hogg-Dube syndrome (MIM.135150)

 somatic mutation of FLCL

• in renal cell carcinomas (chromophobe renal cell carcinoma) (#12907635#)
• somatic mutation of FLCL in colorectal adenocarcinoma

 germline mutation of FLCL in primary spontaneous pneumothorax (MIM.173600)

References

 Schmidt LS. Birt-Hogg-Dube syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med. 2004 Dec;4(8):877-85. PMID: #15579035#

 Okimoto K, Kouchi M, Matsumoto I, Sakurai J, Kobayashi T, Hino O. Natural history of the Nihon rat model of BHD. Curr Mol Med. 2004 Dec;4(8):887-93. PMID: #15579036#

 Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT. Inactivation of BHD in sporadic renal tumors. Cancer Res. 2003 Aug 1;63(15):4583-7. PMID: #12907635#