Steven Schumacher - Academia.edu (original) (raw)

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Papers by Steven Schumacher

by Marc Ladanyi, Scott Carter, Jeff Gentry, Bryan Hernandez, Steven Schumacher, Gordon Saksena, Rehan Akbani, W. Rathmell, Ted Goldstein, Erik Zmuda, Pamela Pollock, Michael McLellan, David Heiman, and Doug Voet

Nature, 2013

We performed an integrated genomic, transcriptomic, and proteomic characterization of 373 endomet... more We performed an integrated genomic, transcriptomic, and proteomic characterization of 373 endometrial carcinomas using array-and sequencing-based technologies. Uterine serous tumors and ~25% of high-grade endometrioid tumors have extensive copy number alterations, few DNA methylation changes, low ER/PR levels, and frequent TP53 mutations. Most endometrioid tumors have few copy number alterations or TP53 mutations but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A, KRAS and novel mutations in the SWI/SNF gene ARID5B. A subset of endometrioid tumors we identified had a dramatically increased transversion mutation frequency, and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy number low, and copy number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may impact post-surgical adjuvant treatment for women with aggressive tumors.

by Marc Ladanyi, Scott Carter, Jeff Gentry, Bryan Hernandez, Steven Schumacher, Gordon Saksena, Rehan Akbani, W. Rathmell, Ted Goldstein, Erik Zmuda, Pamela Pollock, Michael McLellan, David Heiman, and Doug Voet

Nature, 2013

We performed an integrated genomic, transcriptomic, and proteomic characterization of 373 endomet... more We performed an integrated genomic, transcriptomic, and proteomic characterization of 373 endometrial carcinomas using array-and sequencing-based technologies. Uterine serous tumors and ~25% of high-grade endometrioid tumors have extensive copy number alterations, few DNA methylation changes, low ER/PR levels, and frequent TP53 mutations. Most endometrioid tumors have few copy number alterations or TP53 mutations but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A, KRAS and novel mutations in the SWI/SNF gene ARID5B. A subset of endometrioid tumors we identified had a dramatically increased transversion mutation frequency, and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy number low, and copy number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may impact post-surgical adjuvant treatment for women with aggressive tumors.