Genetic Testing for Cancer

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What is Genetic Testing for Cancer?

Genetic testing involves using medical tests to search for specific mutations in someone’s genes. Predictive genetic testing, in particular, is used to look for inherited gene mutations that could give someone a higher risk of getting specific types of cancer.

How Does Genetic Testing for Cancer Work?

Genetic testing for cancer, also known as a hereditary cancer test, works by looking for specific mutations in someone’s genes. Mutations are changes in genes that play a role in the development of cancer. Mutations can often cause a cell to create proteins that impact how the cell grows and divides into new cells, and some mutations can cause cells to grow exponentially and lead to cancer.

Genetic cancer testing can also be done by testing cancer cells for genetic changes. After a person has been diagnosed with cancer, the doctor will often test a sample of cancer cells to look for specific gene mutations. These genetic cancer tests (or DNA cancer screening) offer information on a person’s prognosis and help tell them which kinds of treatment might be most useful. These tests look for acquired gene changes only in the cancer cells taken from the patient and are different from the tests used to discover inherited cancer risk.

Who Should Get a Genetic Cancer Screening?

Why do genetic testing for cancer? Most people, including people with cancer, do not need genetic cancer screening, but we recommend CGx cancer screening for people with a family history of inherited cancer, including:

  • People with a strong family history of specific types of cancer. We recommend that people with a family history of certain types of cancer get a genetic cancer screening to see if they carry a gene mutation that increases their risk of cancer. If the cancer DNA test finds inherited gene mutations, they should get tests to look for cancer or take steps to reduce their risk of cancer.
  • People already diagnosed with cancer, especially if there are other factors to suggest the cancer may have been caused by an inherited gene mutation. Genetic cancer screening can show if someone has a higher risk of other cancers and can help other family members decide if they want to be tested for a gene mutation.
  • For family members of someone known to have an inherited gene mutation that increases the risk of cancer. Genetic testing for cancer can help family members know if they need additional tests to search for cancer early or if they should take steps to attempt to reduce their risk of cancer.

HEREDITARY CANCER SCREENING

Indications Based on Personal or Family History

RARE CANCERS

1 of these cancers diagnosed at any age

  • Ovarian Cancer
  • Breast: Male Breast Cancer or Triple Negative Breast Cancer
  • Colorectal cancer with abnormal MSI/IHC, MSA associated histology
  • Endometrial cancer with abnormal MSI/IHC
  • 10 or more gastrointestinal polyps

CANCER AT A YOUNG AGE

1 of these cancers can be diagnosed before the age of 50

  • Breast Cancer
  • Colorectal Cancer
  • Endometrial Cancer

MULTIPLE CANCERS

A combination of these cancers on the same side of the family

  • 2 or more: breast, ovarian, prostate, or pancreatic cancer
  • 2 or more: colorectal, endometrial, ovarian, gastric, pancreatic, or other cancers (IE ureter/renal pelvis, biliary tract, small bowel, brain, sebaceous adenomas)
  • 2 or more: melanoma or pancreatic cancer

OVARIAN CANCER

Unaffected Patient – Family History vs Hereditary Cancer

Ovarian Cancer table describing hereditary cancer risks

  OVARIAN                                           | Management Considerations

Hereditary Risk

Up to 63%

  • Possibility to begin regiment of ovarian cancer risk reducing agents
  • Possible screening exam with transvaginal ultrasound and CA-125
  • Possible enrollment in investigational screening studies between the ages of 30-35
  • Bilateral salpingo-oopherectomy between ages 35-40 and completion of childbearing years

Familial Risk

Up to 11%

  • Currently no screening guidelines exist

General Population Risk

Up to 0.7%

  • Currently no screening guidelines exist

ENDOMETRIAL CANCER

Unaffected Patient – Family History vs Hereditary Cancer

Endometrial Cancer table describing hereditary cancer risks

  ENDOMETRIAL                                | Management Considerations

Hereditary Risk

Up to 71%

  • Inform Patient about endometrial cancer symptoms
  • Possibility of annual pelvic examination, endometrial sampling and transvaginal ultrasound between the ages of 30-35
  • Possibility of hysterectomy when childbearing years have been completed

Familial Risk

Up to 4%

  • Currently no screening guidelines exist

General Population Risk

Up to 1.6%

  • Currently no screening guidelines exist

BREAST CANCER

Unaffected Patient – Family History vs Hereditary Cancer

Breast Cancer table describing hereditary cancer risks

  BREAST                                             | Management Considerations

Hereditary Risk

Up to 87%

FEMALE:
  • Breast self-exams starting at age 18
  • Clinical breast exams every 6-12 months starting at age 25
  • Yearly breast MRI starting at age 25
  • Possibility to begin regimen of breast cancer risk-reducing agents
  • Possibility for risk-reducing mastectomy
  • Possibility to enroll in investigational screening study with clinical trials
MALE: Risk of developing cancer up to 6.8% by age 70
  • Breast self-exam starting at age 35
  • Yearly clinical breast exam starting at age 35

Familial Risk

Up to 40%

FEMALE:
  • Consider yearly screening mammogram and clinical breast exams every 6-12 months starting 10 years prior to the youngest affected family member, but not before the age of 25
  • Possibility of risk reduction strategies including, but not limited to, chemoprevention
MALE: Risk of developing cancer up to 1% by age 70
  • Currently no screening guidelines exist

General Population Risk

Up to 7.3%

FEMALE:
  • Breast self-exams every 1-3 years starting at age 25
  • Yearly clinical breast exams and screening mammography starting at age 40
MALE: Risk of developing cancer is <0.1% by age 70
  • Currently no screening guidelines exist

COLORECTAL CANCER

Unaffected Patient – Family History vs Hereditary Cancer

  COLORECTAL                                  | Management Considerations

 

Hereditary Risk

Up to 99%

  • Yearly colonoscopy starting as early as age 10-15
  • Possibility of chemoprevention with NSAIDs
  • Possibility of colectomy based on polyp burden and other clinical factors

Familial Risk

Up to 20%

  • Screening colonoscopy starting as early as age 40 or 10 years prior to the youngest diagnosis of colorectal cancer and repeated every 5-10 years based on colonoscopy findings

General Population Risk

Up to 1.9%

  • Screening colonoscopy starting at age 50 or a combination of other modalities including, but not limited to, stool testing and flexible sigmoidoscopy

PANCREATIC CANCER

Unaffected Patient – Family History vs Hereditary Cancer

Pancreatic Cancer table describing hereditary cancer risks

  PANCREATIC                                   | Management Considerations

 

Hereditary Risk

Up to 36%

  • Screening exam with Magnetic Resonance Cholangiopancreatography (MRCP) or Endoscopic Ultrasound (EUS) every 1-2 years as early as age 30-35

Familial Risk

Up to 16%

  • Possible enrollment in clinical trial utilizing Magnetic Resonance Cholangiopancreatography (MRCP) or Endoscopic Ultrasound (EUS)

General Population Risk

Up to 0.5%

  • Currently no screening guidelines exist

PROSTATE CANCER

Unaffected Patient – Family History vs Hereditary Cancer

Prostate Cancer table describing hereditary cancer risks

  PROSTATE                      | Management Considerations

 

Hereditary Risk

Up to 83%

  • Yearly prostate screening starting at the age of 45

Familial Risk

Up to 6%

  • Learn about familial risk concerning the importance of screening exam with Digital Rectal Exam (DRE) and monitoring Prostate Specific Antigen (PSA) starting at age 45

General Population Risk

Up to 0.6%

  • Inform about benefits of screening with Digital Rectal Exam (DRE) and Prostate Specific Antigen (PSA) starting at age 45

TruGenX Hereditary Cancer Screening

BreastOvarianColorectalUterineMelanomaPancreaticGastricProstate
APCXXX
ATMXX
AXIN2
BARDIX
BLM
BMPR1AXXX
BRCA1XXXX
BRCA2XXXXX
BRIP1X
CDH1XXXX
CDK4XX
COKN2AXX
CHEK2XXX
EPCAMXXXXX
GALNT12X
GREM1X
HOXB13XX
MLH1XXXXX
MLH2XXXXX
MLH3
MLH6XXXXX
MUTYHX
NBNXXX
NTHL1
PALB2XXX
P1K3R1
PMS2XXXXX
POLD1X
POLEX
PTENXXXXX
RAD51CX
RAD51DX
RNF43
RPS20X
SMAD2
SMAD4XXX
STK11XXXXXX
TP53XXXXXXXX

Request Test Kits

Please indicate the quantity of genetic testing for cancer kits you would like to receive, then proceed to the next page to confirm your shipping and contact information. Please note: complimentary sample kits are only available to licensed medical professionals.