Genomics

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Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies


ABSTRACT: To identify early driver mutations in ovarian cancer cells, we used dense whole genome sequencing of micrometastases and microscopic residual disease collected at three time points from a single patient during treatment for high-grade serous ovarian cancer (HGSOC). Laser capture microdissection of tumour islets was performed on samples prior to chemotherapy, after three cycles of chemotherapy and at recurrence. Long frament read whole genome sequencing was performed and mutations were identified. To our knowledge, this is the first longitudinal study that attempts to investigate spatial and temporal micro-heterogeneity in cancer.

PROVIDER: EGAS00001001909 | EGA |

REPOSITORIES: EGA

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Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.

Hellner Karin K   Miranda Fabrizio F   Fotso Chedom Donatien D   Herrero-Gonzalez Sandra S   Hayden Daniel M DM   Tearle Rick R   Artibani Mara M   Carrami Eli M EM   Williams Ruth R   Gaitskell Kezia K   Elorbany Samar S   Xu Ruoyan R   Laios Alex A   Buiga Petronela P   Ahmed Karim K   Dhar Sunanda S   Zhang Rebecca Yu RY   Campo Leticia L   Myers Kevin A KA   Lozano María M   Ruiz-Miró María M   Gatius Sónia S   Mota Alba A   Moreno-Bueno Gema G   Matias-Guiu Xavier X   Benítez Javier J   Witty Lorna L   McVean Gil G   Leedham Simon S   Tomlinson Ian I   Drmanac Radoje R   Cazier Jean-Baptiste JB   Klein Robert R   Dunne Kevin K   Bast Robert C RC   Kennedy Stephen H SH   Hassan Bassim B   Lise Stefano S   Garcia María José MJ   Peters Brock A BA   Yau Christopher C   Sauka-Spengler Tatjana T   Ahmed Ahmed Ashour AA  

EBioMedicine 20160702


Current screening methods for ovarian cancer can only detect advanced disease. Earlier detection has proved difficult because the molecular precursors involved in the natural history of the disease are unknown. To identify early driver mutations in ovarian cancer cells, we used dense whole genome sequencing of micrometastases and microscopic residual disease collected at three time points over three years from a single patient during treatment for high-grade serous ovarian cancer (HGSOC). The fu  ...[more]

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