functional exploration of the adult ovarian granulosa cell tumor-associated somatic foxl2 mutation p.cys134trp (c.402cg)成人卵巢颗粒细胞的功能探索肿瘤相关突变体细胞foxl2 p。.pdfVIP

Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C.G) ´ ´ 1,2. 1,2. ´ 1,2 1,2,3 Berenice A. Benayoun , Sandrine Caburet , Aurelie Dipietromaria , Adrien Georges , Barbara 4 5 ˆ 1,2 1,2 D’Haene , P. J. Eswari Pandaranayaka , David L’Hote , Anne-Laure Todeschini , Sankaran 5 6 4 1,2 Krishnaswamy , Marc Fellous , Elfride De Baere , Reiner A. Veitia * ´ ´ ´ 1 Programme de Pathologie Moleculaire et Cellulaire, Institut Jacques Monod, Paris, France, 2 Universite Paris Diderot/Paris 7, Paris, France, 3 Ecole Normale Superieure de Paris, Paris, France, 4 Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, 5 School of Biotechnology, Kamaraj University, Madurai, India, ´ ´ ´ ´ 6 Departement de Genetique et Developpement, Institut Cochin, Paris, France Abstract Background: The somatic mutation in the FOXL2 gene c.402C.G (p.Cys134Trp) has recently been identified in the vast majority of adult ovarian granulosa cell tumors (OGCTs) studied. In addition, this mutation seems to be specific to adult OGCTs and is likely to be a driver of malignant transformation. However, its pathogenic mechanisms remain elusive. Methodology