FREQUENTLY ASKED QUESTIONS
CANCERINTERCEPT™ DETECT FREQUENTLY ASKED QUESTIONS:
What is a liquid biopsy?
Both normal and tumor cells release small DNA fragments into the bloodstream; this circulating DNA is known
as cell free DNA (cfDNA). A liquid biopsy is a non-invasive, highly-sensitive, and cost-effective method for
isolating and detecting cfDNA, including circulating tumor DNA (ctDNA) in the blood of patients with cancer or
individuals at risk for contracting cancer.
What is ctDNA?
As a tumor grows, it naturally sheds cells due to cell death (necrosis and/or apoptosis) of the solid tumor
tissue. These cells then rupture and release DNA fragments into the bloodstream. This circulating tumor DNA,
or ctDNA, can be detected and analyzed by Pathway Genomics’ CancerIntercept™ liquid biopsy test.
Who should be tested with CancerIntercept™ Detect?
CancerIntercept™ Detect is appropriate for individuals who have not been diagnosed with cancer, but have
been identified to be at an increased risk of one or more specific cancer types, including: colorectal, breast,
lung, and ovarian cancers, melanoma and possibly other cancer types. An individual may be at an increased
risk for cancer for a number of reasons, including, but not limited to:
• Known predisposition to a hereditary cancer syndrome
e.g. Carrier of a BRCA1 pathogenic variant
• Family history of cancer
e.g. Mother diagnosed with colon cancer
• Lifestyle choices
e.g. History of smoking
• Environmental exposures
e.g. Previous exposure to radiation
Our complete clinical history questionnaire detailing potential risk factors for cancer can be
found here.
What genes and markers are analyzed in CancerIntercept™Detect?
All together, 96 different somatic mutations that occur in nine specific cancer driver genes are analyzed. These
markers are found in the following genes: BRAF, CTNNB1, EGFR, FOXL2, GNAS, KRAS, NRAS, PIK3CA and
TP53. The full list of included markers can be found here.
CLIA No. 05D1092505 | CAP No. 7232232
Pathway Genomics Corporation
I 4755 Nexus Center Drive I San Diego, CA 92121
www.pathway.com
FREQUENTLY ASKED QUESTIONS
CANCERINTERCEPT™ DETECT FREQUENTLY ASKED QUESTIONS:
What cancer types is CancerIntercept™ Detect designed to detect?
The somatic (acquired in the tumor cells) alterations included in this test have been associated with colorectal,
breast, ovarian, lung cancers as well as melanoma and other cancer types. Below is a table describing the
frequency in which somatic mutations in each of nine genes is found in specific cancer types.
The driver gene frequencies for each of the cancer types below are referenced from the COSMIC database
(http://cancer.sanger.ac.uk/cosmic). These values are not necessarily the detection rates found via liquid
biopsy or the CancerIntercept™ screen.
GENE
FREQUENCY OF SOMATIC MUTATIONS BY CANCER TYPE
BRAF
Melanoma (45%), thyroid cancer (41%), colorectal cancer (11%), ovarian cancer
(7%), pancreatic cancer (2%), testicular cancer (2%), prostate cancer (1%),
non-small cell lung carcinoma (1%).
CTNNB1
Colorectal cancer (48%), testicular cancer (19%), endometrial cancer (18%),
pancreatic cancer (7%), ovarian cancer (6%), thyroid cancer (3%) kidney cancer
(8%), prostate cancer (3%).
EGFR
Lung cancer (29%), prostate cancer (3%), head & neck cancer (2%).
FOXL2
Ovarian cancer (18%), testicular cancer (2%), granulosa cell tumors (97%).
GNAS
Pancreatic cancer (16%), kidney cancer (16%), testicular cancer (9%), thyroid
cancer (3%), colorectal cancer (2.3%).
KRAS
Pancreatic cancer (57%), colorectal cancer (36%), lung cancer (17%),
endometrial cancer (14%), ovarian cancer (12%), gastric cancer (6%), prostate
cancer (4%), testicular cancer (4%), thyroid cancer (2%)
NRAS
Metastatic melanoma (18%), thyroid cancer (7%), testicular cancer (2%),
colorectal cancer (3-5%).
PIK3CA
TP53
Breast cancer (26%), endometrial cancer (21%), colorectal cancer (14%),
gastric cancer (10%), ovarian cancer (9%), head & neck cancer (7%), lung
cancer (4%), thyroid cancer (3%), prostate cancer (2%), pancreatic cancer (2%).
Ovarian cancer (46%), colorectal cancer (45%), head & neck cancer (38%),
pancreatic cancer (36%), lung cancer (34%), gastric cancer (33%), breast
cancer (23%), endometrial cancer (17%), prostate cancer (14%), melanoma
(12%), thyroid cancer (6%), testicular cancer (5%), kidney cancer (5%).
CLIA No. 05D1092505 | CAP No. 7232232
Pathway Genomics Corporation
I 4755 Nexus Center Drive I San Diego, CA 92121
www.pathway.com
FREQUENTLY ASKED QUESTIONS
CANCERINTERCEPT™ DETECT FREQUENTLY ASKED QUESTIONS:
What is the limit of detection (LOD) of the test?
Depending on the amount of cell-free DNA isolated, our proprietary technology and analysis enables the
reporting of as few as two mutant DNA copies per 5-ml blood plasma sample as the lower limit of detection.
The LOD for each mutation were determined in each run based on input. In our validation, the 100% detection
limit at 300, 100, 50, and 10 ng total DNA input was 0.01%, 0.025%, 0.06%, and 0.25% mutant DNA,
respectively. Collectively, the detection sensitivity of mutations across the full range of input (10-300 ng) was
78.5%, 98.6%, and 100% for mutations with copy numbers between 2-5, 5-9, and >9, respectively.
How do I order the CancerIntercept™ Detect?
Physicians can contact Pathway Genomics by phone, email, or via our website to submit their information and
set up an account. Once the physician is registered and a request for kits is made, Pathway Genomics will ship
sample collection kits to the address provided. Once the sample has been collected, the physician can send
back the kit with the required and completed paperwork using the prepaid package included with each kit.
Patients can also order CancerIntercept™ Detect online through Pathway Genomics’ online physician network.
After speaking with a client services representative, the patient must create a personal account with Pathway
Genomics Member Site (members.pathway.com) and enter all personal health information into the website for
physician review. It will take up to 1-2 business days for physician review, at which time a sample collection kit
will be sent to the patient’s primary care physician or to the phlebotomist if the test is approved. For more
information about this process, please view the CancerIntercept™ Detect website.
If you have additional questions, please contact our Client Services department at 877-505-7374 or
[email protected]
What are the specimen requirements for CancerIntercept™ Detect?
A blood sample must be collected using the specialized specimen collection tubes provided in Pathway
Genomics’ collection kit (2 cell-free DNA BCT tubes, each requiring 10-mL of blood). Please label each tube
with two unique identifiers for the patient (patient name and date of birth are required).
Is CancerIntercept™ Detect covered by insurance?
Pathway Genomics will bill a patient’s insurance directly for the test. However, coverage for the test will
ultimately depend on the individual patient’s insurance plan, including copayments and deductibles.
Click here to learn more about Pathway Genomics’ billing process.
CLIA No. 05D1092505 | CAP No. 7232232
Pathway Genomics Corporation
I 4755 Nexus Center Drive I San Diego, CA 92121
www.pathway.com