TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.

doi:10.1093/nar/gkv111

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TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.

Nucleic acids research - 18 Aug 2015

Chien Jeremy, Sicotte Hugues, Fan Jian-Bing, Humphray Sean, Cunningham Julie M, Kalli Kimberly R, Oberg Ann L, Hart Steven N, Li Ying, Davila Jaime I, Baheti Saurabh, Wang Chen, Dietmann Sabine, Atkinson Elizabeth J, Asmann Yan W, Bell Debra A, Ota Takayo, Tarabishy Yaman, Kuang Rui, Bibikova Marina, Cheetham R Keira, Grocock Russell J, Swisher Elizabeth M, Peden John, Bentley David, Kocher Jean-Pierre A, Kaufmann Scott H, Hartmann Lynn C, Shridhar Viji, Goode Ellen L

Abstract excerpt

To determine early somatic changes in high-grade serous ovarian cancer (HGSOC), we performed whole genome sequencing on a rare collection of 16 low stage HGSOCs. The majority showed extensive structural alterations (one had an ultramutated profile), exhibited high levels of p53 immunoreactivity, and harboured a TP53 mutation, deletion or inactivation. BRCA1 and BRCA2 mutations were observed in two tumors, with...

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PMID: 25916844
DOI: 10.1093/nar/gkv111
PMCID: PMC4538798

Genes

BRCA2
BRCA1

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