# Mutation of FOXL2 in granulosa cell tumours of the ovary

Source: https://onco.cc/key-papers/paper-shah-foxl2-granulosa-nejm-2009/  
OnCo record `paper-shah-foxl2-granulosa-nejm-2009` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Fields

- Kind: Key paper
- Last checked: 2026-09-17
- Journal: New England Journal of Medicine
- Year: 2009
- DOI: 10.1056/NEJMoa0902542
- Authors: Shah SP, Köbel M, Senz J, et al.
- 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.
- What it means: 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.

## Sources

- N Engl J Med 2009: https://doi.org/10.1056/NEJMoa0902542
- PubMed: https://pubmed.ncbi.nlm.nih.gov/19516027/

## Connected records

- cancers: [Adult granulosa cell tumour of the ovary](https://onco.cc/cancers/granulosa-cell-tumour/)
- journals: [New England Journal of Medicine](https://onco.cc/journals/nejm/)

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