Markers for ovarian cancer and the uses thereof

A marker and ovarian cancer technology, applied in the field of biomarkers of high-grade serous ovarian cancer, can solve the problems of insignificance and unclear prognosis of HG-SOC patients

Inactive Publication Date: 2017-02-22
AGENCY FOR SCI TECH & RES
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Furthermore, in these previous reports, the authors only investigated the association of specific variants with respect to disease

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  • Markers for ovarian cancer and the uses thereof
  • Markers for ovarian cancer and the uses thereof
  • Markers for ovarian cancer and the uses thereof

Examples

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Embodiment

[0196] Genome-wide mutation spectrum and statistical distribution of gene mutations

[0197] Exome sequencing by Illumina or ABISOLID sequencing platforms was performed on 334 HG-SOC tumor samples at the Human Genome Sequencing Center (HGSC): Baylor College of Medicine (BCM), Broad Institute ) Genome Center (BI) and the Washington University Genome Institute (WUSM). Data were analyzed by the TCGA research network as previously described (TCGA research network Nature 2011 Vol 474; 609-15). Download the processed mutation data from the TCGA data portal for further analysis.

[0198] The TCGA data portal contains 21,978 mutations across all studied genes and patients. Genes with unknown mutation status were removed, and the remaining 17,639 mutations consisted of germline, LOH, or somatic mutations and 9083 unique gene symbols across 334 patients ( figure 1 ). These mutations include all variants, including deletions, insertions, missense mutations, or silent mutations of ger...

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Abstract

The present invention relates to markers for high-grade serous ovarian cancer (HG-SOC) and methods and uses thereof for diagnosing high-grade serous ovarian cancer (HG-SOC) and/or determining the prognosis of a subject suffering from high-grade serous ovarian cancer (HG-SOC) by determining the presence or absence of a mutation in a CHEK2 marker or mutations of markers from a 21 -gene panel comprising ADAMTSL3, ATR, CHEK2, ENAH, ERN2, GLI2, GYPB, KIAA1324L, LRRN2, MAP3K6, MAPK15, MET, MLL4, NIPBL, PCDH15, PPP1CC, PTCH1, PTK2B, RPS6KA2, RSU1 and TNC. It also relates to the use of markers CHEK2, RPS6KA2 and MLL4 in predicting the risk of developing high-grade ovarian serous ovarian cancer by determining germline mutations in at least one of these three markers.

Description

technical field [0001] The present invention relates to biomarkers for high-grade serous ovarian cancer (HG-SOC) and their use in diagnosing high-grade serous ovarian cancer (HG-SOC) and / or determining the presence of high-grade serous ovarian cancer (HG-SOC) ) method and use of prognosis of a subject. Background technique [0002] Ovarian cancer (of which high-grade serous ovarian cancer (HG-SOC) is the most prevalent) is currently one of the deadliest gynecological diseases in the world. High-grade serous ovarian cancer (HG-SOC), a major histologic subtype of epithelial ovarian cancer (EOC), is a poorly characterized, heterogeneous, and fatal disease in which somatic mutations in TP53 are Common and inherited loss-of-function mutations in cancer-prone BRCA1 / 2 in 9.5-13% of EOC patients (Bolton et al. JAMA 2012 25;307(4):832-90). However, the overall burden of disease due to inherited or sporadic mutations is unknown. Despite remarkable progress in high-throughput biotec...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6886C12Q2600/118C12Q2600/156C12Q2600/106C12Q2600/158C12Q2600/172
Inventor 弗拉迪米尔·库兹涅佐夫安娜·伊芙希娜欧锦翔
Owner AGENCY FOR SCI TECH & RES
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