Somatic mutation of c.402C>G gene FOXL2 (forkhead box L2) which causes a change of highly conserved cysteine to tryptophan at the position 134 of the FOXL2 protein, is a characteristic marker of ovarian granulosa cell tumors. Besides these tumors, this mutation was also found in the comas and in juvenile granulosa cell tumors.
The FOXL2 gene is located on chromosome 3q23 and encodes a transcription factor with a "fork-head" DNA-binding domain, which plays a role in the development and function of the ovaries.
Examination
The mutation c.402C>G of FOXL2 gene is detected using PCR and direct sequencing (see Fig.1).
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Fig.1Mutation c.402C>G of the FOXL2 gene.
Analytical sensitivity and specificity of sequencing: 99%.
Limitations:
In the case of analysis of somatic mutations by sequencing, if the altered cell line is not represented at least by 20%, the mutations are not detected.
References
- 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. Mutation of FOXL2 in granulosa-cell tumors of the ovary. N Engl J Med. 2009;360(26):2719-29.
- Schrader KA, Gorbatcheva B, Senz J, Heravi-Moussavi A, Melnyk N, Salamanca C, Maines-Bandiera S, Cooke SL, Leung P, Brenton JD, Gilks CB, Monahan J, Huntsman DG. The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors. PLoS One. 2009;4(11):e7988.