Cancer Genetic Testing

Our cancer genetic testing (CGx) targets the most important genes associated with breast, colon, pancreatic, gynecological and melanoma cancers. These tests are ordered frequently by oncologists, as well as family doctors and internal medicine doctors that are primary care physicians and with patients with at-risk family histories.

Statistically Speaking

≈1 in 300 people may be carriers of a gene alteration associated with Lynch Syndrome

Cancers associated with Lynch Syndrome are typically diagnosed at a young age

 Inherited Gene Mutations

While many inherited genetic variants are beneficial or neutral, others are harmful and believed to contribute to 5-10% of all cancers. Historical family patterns of certain types of cancer, along with other factors such as the age at which that cancer has typically developed, can signal inherited variant susceptibility syndrome.

Diax Labs™ offers a multi-gene blood draw test that accurately identifies the presence of an inherited gene mutation or alteration. A patient who receives a negative test result will benefit from peace of mind knowing they did not inherit a harmful gene variant, while a patient who receives a positive test result will benefit from opportunities to better understand and potentially manage their cancer risk, and to make important decisions about their medical care.

In addition to determining an increased risk for developing cancer, our blood panel test also points to types of cancer screenings that should be conducted.

Breast and Ovarian Cancer

BRCA genes come in pairs (BRCA1 and BRCA2). Only one gene in the pair needs to have a mutation to put a patient at risk for cancer. For women, a BRCA mutation increases the risk for breast and ovarian cancers. For men, the overall risk for cancer is lower than women, although the risk for breast, prostate and skin cancers is increased. BRCA2 gene mutations in some men, particularly at a younger age, are associated with an increased risk of lymphoma and cancers of the pancreas, stomach, bile duct and gallbladder.

Family History. BRCA mutation is almost always inherited from a parent, and that parent’s family tree typically has history of early cancers, particularly breast and ovarian cancers. Importantly, however, a patient with a BRCA mutation will not necessarily develop cancer.

The Importance of Testing. A patient with a BRCA mutation has a 50% chance of passing on the gene mutation to each child and a 50% chance of passing on the gene without the mutation. As a result, knowing the patient’s BRCA status is important to both the patient’s children to whom the gene mutation may have been passed, as well as the patient’s siblings who may have inherited the BRCA mutation from a parent.

Lynch Syndrome

Inherited mutations in the genes of MLH1, MSH2, MSH6, PMS2 and EPCAM give a patient an increased lifetime risk of certain cancers. This genetic syndrome, known as Lynch syndrome and also called hereditary non-polyposis colorectal cancer (HNPCC), puts patients at a higher risk of certain types of cancer.

Male and Female
Colorectal cancer 20-80%
Stomach cancer 1-13%
Urinary tract cancer 1-18%
Small bowel cancer 1-6 %
Pancreatic cancer 1-6 %
Liver/bile duct cancer 1-4 %
Brain or central nervous system 1-3 %
Female
Endometrial cancer 15-60%
Ovarian cancer 1-38%

 

As a result of medical studies conduced recently, other cancers have been added, including prostate cancer, Muir Torre skin cancer and breast cancer.

Who and Why to Test

The American Cancer Society has outlined certain factors associated with cancers that run in families. Physicians should consider CGx testing for any patient who has one or more of these family histories.

  • Multiple cases of the same type of cancer, particularly if it is a rare or uncommon type of cancer
  • Cancers occurring at younger-than-usual ages, such as colorectal cancer in a 22-year-old
  • More than one type of cancer occurring in one family member, such as a female with both breast and ovarian cancer
  • Cancers occurring in both of a pair of organs, such as both breasts, both kidneys, both eyes, both ovaries
  • Cancer occurring in a gender not usually affected, such as breast cancer in a male relative
  • Cancer occurring across generations, such as grandmother, mother and daughter, or grandfather, father and son
  • Childhood cancer occurring in more than one sibling, such as sarcoma in both a sister and brother

Privacy Protection

Concerns about privacy are paramount for patients, and The Genetic Information Nondiscrimination Act (GINA) of 2008 protects against discrimination based on genetic information in both health insurance (Title I) and employment (Title II). Additionally, since results of genetic testing are considered health information, they are covered by the Privacy Rule of the Health Information Portability and Accountability Act (HIPPA) of 1996, which protects the privacy of health information, empowers patients to control certain uses and sharing of their health-related information and sets limits on the use and release of health records. There are also laws in many states that protect patient privacy and limit the release of genetic and other health information.

 

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