{"entity":{"id":"paper-shah-foxl2-granulosa-nejm-2009","kind":"paper","name":"Mutation of FOXL2 in granulosa cell tumours of the ovary","aka":[],"tldr":"Sequencing of adult granulosa cell tumours found a single recurrent mutation in the FOXL2 gene in almost every case, giving this rare ovarian cancer a defining molecular marker and a diagnostic test.","summary":"Whole-transcriptome sequencing of four adult granulosa cell tumours followed by targeted validation in 89 additional adult tumours and other ovarian tumours, identifying the FOXL2 c.402C>G (C134W) mutation in 97 percent of adult granulosa cell tumours and rarely in other tumour types.","asOf":"2026-09-17","links":[{"label":"N Engl J Med 2009","url":"https://doi.org/10.1056/NEJMoa0902542"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/19516027/"}],"tags":[],"related":[],"cancers":["granulosa-cell-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["nejm"],"dependsOn":[],"notes":[],"journal":"New England Journal of Medicine","year":2009,"doi":"10.1056/NEJMoa0902542","pmid":"19516027","authors":"Shah SP, Köbel M, Senz J, et al.","paperType":"translational","findings":["FOXL2 C134W mutation in 86 of 89 adult granulosa cell tumours (97 percent).","Absent from most other ovarian tumour types and from juvenile granulosa cell tumours."],"whatItMeans":"FOXL2 mutation testing is now used to confirm the diagnosis of adult granulosa cell tumour, and the mutation is central to understanding and treating the disease.","caveats":["Discovery study; no FOXL2-directed therapy exists yet."],"changedPractice":true},"route":"/key-papers/paper-shah-foxl2-granulosa-nejm-2009/","neighbours":{"cancer":[{"id":"granulosa-cell-tumour","kind":"cancer","name":"Adult granulosa cell tumour of the ovary","route":"/cancers/granulosa-cell-tumour/"}],"journal":[{"id":"nejm","kind":"journal","name":"New England Journal of Medicine","route":"/journals/nejm/"}]}}