Rainbow Pan-Cancer™ Test

Cancer 1200

Dual Large Genomic Rearrangement Sequencing & Whole Exome Sequencing Test

Rainbow Cancer 1200 Pan-Cancer™ Test

Introduction

Multiple Sequencing Approach

Cancer genetic predisposition is genetic variation typically inherited from a patient's parent, and increases the likelihood of developing a cancer. Certain mutations can greatly increase the risk of developing cancers while others may have much smaller effects. For example, mutations in cancer predisposition genes are associated with 3% to 5% of breast and colorectal cancers, and as much as 15% of ovarian cancer.

• Most cancer genetic tests do not detect large genomic rearrangements because challenging sequencing methods and bioinformatics analysis capacities must be developed and validated using a large body of patient samples.

  • These large genomic rearrangements are frequently associated with early-onset cancers (age <40), and with more damaging forms of cancers. If these are not reported, patients predisposed to high risks of severe cancers may receive false-negative results.

  • We use a high-density sequencing probe coverage of both introns and exons of 30 key cancer genes, coupled with advanced bioinformatics specifically validated to determine these large genomic rearrangements.

• Simultaneously, we also perform whole exome sequencing to report newly-discovered cancer gene mutations, to provide the most comprehensive detection of both well-known and novel mutations for each patient.

  • Many genetic disorders are associated with elevated cancer risks. Most hereditary cancer tests do not cover these conditions. Whole exome sequencing can detect mutations in genes associated with these genetic disorders, providing a more comprehensive screening result compared to conventional testing of only a small number of hereditary cancer genes.

• RNA sequencing is also available to detect and confirm splice variants. Splicing is the removal of non-coding sequences from an RNA molecule followed by the ligation of exons, resulting in potential allele loss-of-function. Aberrant splicing data associated with a DNA variant can be used as evidence of pathogenicity. RNA-sequencing (RNA-seq) has shown significant potential for improving the diagnostic yield.

• The sequencing tests are performed simultaneously at separate CLIA-certified and CAP-accredited laboratories.

Hereditary Cancer Risks

Exome sequencing test can determine if a patient has increased risk of multiple types of cancers. This increased risk can often be managed by monitoring, preventive medications or even prophylactic surgery. Family members of an individual who carries a pathogenic cancer mutation may also consider testing to clarify their own risk.  

Determination of a familial cancer (germline) mutation in a cancer predisposition gene may guide treatment of the cancer patient.  For examples, oncologists may consider

• Olaparib (LYNPARZA, AstraZeneca Pharmaceuticals, LP) for adult patients with deleterious germline or somatic homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC)

• Colectomy for colorectal cancer and Lynch syndrome patients

• PARP inhibitor as treatment for an ovarian cancer patient with a BRCA1/2 mutation

• Elimination of radiation in a breast cancer patient with a TP53 mutation.

See ASCO web resource below for more information.  

Common Cancer Risks

Many common cancers such as lung and liver cancers are caused by multiple gene variations and the environment. Genotyping methods will be used to determine polygenic cancer risk associated wide range of common cancers.

Test Descriptions

Test Options

Whole Exome Sequencing Test

• This is a multi-cancer screening test designed for cancer patients and apparently-healthy individuals without cancer symptoms or family histories

• We analyze mutations in genes associated with hundreds of genetic disorders that can cause cancers

• In addition to exome-wide analysis of 20,000 genes, we also perform specific, in-depth analysis for genetic variations in 758 genes, covering over 1200 hereditary cancers and diseases that can cause cancers.

• We also perform deep analysis of 120 hereditary cancer genes, and report copy number and single nucleotide variants, splice variants, and indels

  • Pathogenic variants and variants of uncertain clinical significance (VUS) in genes associated with patient’s cancer symptoms will be reported

  • Duplication, insertion, deletion and single-nucleotide variant analysis included

  • Whole-exome based copy number variants (CNV) are also included

• This test also preemptively determines the risks of developing a wide range of hereditary cancers for asymptomatic individuals, such as relatives of cancer patients who are confirmed carriers of a cancer gene mutation.

Large Genomic Rearrangement Sequencing Test on 30 “Critical” Cancer Genes

• Large genomic arrangements (LGRs) are frequently-associated with early-onset cancers and more severe forms of cancers. Yet, many cancer sequencing tests do not include these LGRs because it is very difficult to detect and confirm LGRs simultaneously from a large number of genes.

• High-density sequencing probes are used to cover introns and exons of 30 medically-actionable cancer genes, to enable detections of LGRs

• Clinically-validated bioinformatics are used to specifically determine these LGRs

  • Our partner laboratory has been using this test for over 10,000 Asian, Caucasian, Hispanic, and other ethnic-specific patients and asymptomatic individuals.

• We analyze LGRs using proprietary and validated bioinformatics

• We also confirm LGR findings with Sanger sequencing, PCR, microarray or MLPA assays before a clinical report is issued

• The report also include other mutations in these 30 genes associated with hereditary cancers, including single nucleotide variants, small insertions and deletions

RNA sequencing of 40 or 63 Cancer Genes

• RNA sequencing with splice variant analysis may increase the diagnostic yields in patients carrying splicing alterations, which may be difficult to confirm by DNA sequencing alone.

Optional Common Cancer Risk Assessment Test. Your sample can also be genotyped at a CLIA-certified and CAP-accredited laboratory for Asian-based, polygenic risk assessment of seven common cancers (see list below).

Test Process

• The process starts with a physician office visit. The clinician will order the test for the patient.

• Clinical whole exome sequencing at 150X-200X coverage is performed at U.S. CAP-accredited or CLIA-certified laboratory. 

• Large genomic rearrangement sequencing is simultaneously performed at a separate U.S. CAP-accredited or CLIA-certified laboratory. 

• Non-invasive test - Two buccal swabs are needed for this two-in-one test. Alternatively we also accept two blood tubes (3mL EDTA).

• Risk assessment test for seven cancers is performed using high-density DNA array genotyping technologies.

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