This gene encodes a transcription factor with a fork-head DNA-binding domain. FOXL2 is a critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 and may play a role in ovarian development and function.
Somatic mutations, consisting in substitutions only, are observed in about 25% of ovarian cancers. More than 95% of mutations target amino acid 134.
References (open access):
Adult-type granulosa cell tumors and FOXL2 mutation. Köbel M, Gilks CB, Huntsman DG. Cancer Res. 2009 Dec 15;69(24):9160-2.
Mutation of FOXL2 in granulosa-cell tumors of the ovary. Shah SP, Köbel M, Senz J, Morin RD, Clarke BA, Wiegand KC, Leung G, Zayed A, Mehl E, Kalloger SE, Sun M, Giuliany R, Yorida E, Jones S, Varhol R, Swenerton KD, Miller D, Clement PB, Crane C, Madore J, Provencher D, Leung P, DeFazio A, Khattra J, Turashvili G, Zhao Y, Zeng T, Glover JN, Vanderhyden B, Zhao C, Parkinson CA, Jimenez-Linan M, Bowtell DD, Mes-Masson AM, Brenton JD, Aparicio SA, Boyd N, Hirst M, Gilks CB, Marra M, Huntsman DG. N Engl J Med. 2009 Jun 25;360(26):2719-29.