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Exome + targeted sequencing of deep infiltrating endometriosis lesions
(Anglesio et al, NEJM 2017)
• Exome sequencing of 24 deep lesions (nodules) vs adjacent ‘normal’
• Additional targeted (cancer-driver mutations) sequencing of 3 lesions
• Additional KRAS mutation sequencing of 12 lesions, epithelial vs. stromal cell components
Exome + targeted sequencing of deep infiltrating endometriosis lesions
(Anglesio et al, NEJM 2017)
• Exome sequencing of 24 deep lesions (nodules) vs adjacent ‘normal’
• Additional targeted (cancer-driver mutations) sequencing of 3 lesions
• Additional KRAS mutation sequencing of 12 lesions, epithelial vs. stromal cell components
Results:
5/24 patients: cancer driver mutations in
ARID1A, PIK3CA, KRAS, PPP2R1A (21%) 6/39: KRAS mutations detected (15%)
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PRECONGRESS COURSE 03 I VIENNA, AUSTRIA – 23 JUNE 2019 95
