Ovarian Cancer Panel Sequencing

Ovarian Cancer Panel Sequencing

Description of Ovarian Cancer

Ovarian cancer is the leading cause of death in gynaecological cancer and ranks fifth in mortality of all cancers in women. Epithelial ovarian cancer is the most common type in ovarian malignant tumors which is usually detected in postmenopausal women, and about 10% of ovarian cancers originate from germ cell mutations, which is more common in adolescents or young women. Epithelial ovarian cancer contains five different subtypes. Among them, high-grade serous carcinoma (HGSC) is the most common. There are already many hypotheses explaining the pathogenesis of ovarian cancer, but no clear conclusion yet. Lower grade ovarian cancer grows slowly, mostly confined to the ovary,

with relatively clear precursor lesions. Among them, ovarian epithelial inclusions (OEI) may be a potential precancerous lesion, which may be mainly from the oviductal mucosa epithelium. Most high-grade ovarian cancers are likely to originate from the serous tubal intraepithelial carcinoma (STIC) at the umbrella end of the fallopian tube, which in turn spreads to the ovaries, or the normal fallopian tube mucosa is directly implanted on the surface of the ovary to form OEI, which in turn undergoes malignant transformation. There are also some high-grade ovarian serous carcinomas that may be derived from pelvic dissemination of endometrial EIC or invasive serous carcinoma. A considerable portion of endometrioid and clear cell carcinoma may be secondary to endometriotic tissue. The occurrence of mucinous and Brenner tumors is unclear, and the transitional epithelial nest adjacent to the ovary is a possible source.

A number of genes are known to be involved in inherited susceptibility of ovarian cancer. The BRCA1 gene produces a tumor-suppressor protein and helps repair damaged DNA. The TP53 gene plays an important role in regulating cell cycle, DNA repair and apoptosis. These two genes are the most common mutations in ovarian cancer. The genetics of lower grade ovarian cancers are relatively stable, with relatively specific genetic mutations (including K-ras, BRAF, ERBB2, CTNNB1, PTEN and PIK3CA), but rarely involving the TP53 gene. High-grade ovarian cancer develops rapidly, often involving the ovary, mostly developed by STIC, with a high frequency of TP53 mutations. What's more, the PTEN gene, mapping on chromosome 10q23.3, often has the mutations and a loss of heterozygosity, which is usually detected in endometrioid-type ovarian tumors. In addition, other mutations in STK11 and CDH1 genes are thought to confer high risk of ovarian cancer. What's more, pathogenic variants in BARD1, CHEK2, PALB2, ATM, BRIP1, RAD51C, RAD51D and NBN also moderately increase ovarian cancer risk.

To support clinical research related to ovarian cancer, our ovarian cancer panel platform offers a comprehensive ovarian cancer library which contains of 34 genes. Targeted DNA sequencing technology that enables deep sequencing at high coverage levels is provided. This panel can be applied to help researchers investigate the mechanism, propagation and possibly therapy of ovarian cancer. And also, you can choose the genes from the ovarian cancer panel gene list to customize your exclusive panel.


Gene List of Ovarian Cancer Panel

ATM ATR BARD1 BRAF BRCA1 BRCA2 BRIP1 CDH1 CHEK2 CTNNB1
EPCAM ERBB2 FANCC KRAS MLH1 MRE11 MSH2 MSH6 MUTYH NBN
NF1 PALB2 PIK3CA PMS1 PMS2 POLD1 PTEN RAD50 RAD51C RAD51D
RECQL SMARCA4 STK11 TP53            

Highlights of Ovarian Cancer Panel Sequencing Service

  • Target-enrichment sequencing by Illumina provides extremely high depth (average depth > 1000x) with lower costs.
  • High coverage uniformity ensures the sequencing data more efficiency.
  • SNVs, indels, and even low frequency variations can be detected.
  • Strict quality control throughout the pipeline workflow to ensure the accuracy and repeatability of the sequencing.
  • Fast turnaround time.

Applications of Ovarian Cancer Panel Sequencing

  • Cancer related mechanism studies
  • Biomarker discovery
  • Therapeutic target discovery
  • Drug target discovery
  • Discover rare mutations and detect low frequency mutations

Service Specifications

Service Specifications

Sample Requirements

  • Sample types for genome DNA from tissues, whole blood, cultured cells, and formalin-fixed paraffin-embedded (FFPE) tissues.
  • Recommended amount: 2μg
  • Minimum amount: 200ng
  • Collection: DNA samples are stored in TE buffer or equivalent. Blood is collected by routine blood collection kits.
Service Specifications

Sequencing

  • Illumina PE150
  • Enrichment Method: Amplicon sequencing
  • More than 80% of bases with a ≥Q30 quality score
  • Recommended sequencing depth: ≥ 500x
Service Specifications

Bioinformatics Analysis

We provide customized bioinformatics analysis including:

  • Read alignment
  • Variant calling/Annotation

Gene Panel Workflow

CD Genomics provides the accurate and cost-effective ovarian cancer panel sequencing and bioinformatics analysis. Our professional expert team executes quality management, following every procedure to ensure confident and unbiased results. The general workflow for ovarian cancer panel sequencing is outlined below.

Gene Panel Workflow

Clinical Guidance on Gene Mutation by NCCN Guideline

Gene Targeted Drugs
BRCA1/2 Olaparib

For more information about the ovarian cancer panel or need other amplification requirements, please contact us.

References:

  1. Matina P, et al. The use of panel testing in familial breast and ovarian cancer. Clinical Medicine, 2017. 17, 568-572.
  2. Yong J L, et al. Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer. Yonsei Medical Journal, 2019. 60, 914-923.
* For Research Use Only. Not for use in diagnostic procedures.

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