Hereditary Cancer Syndromes

At Rocky Mountain Cancer Centers, we know that every cancer is as unique as the patient who has it. We also know that genetic testing can provide valuable information about gene mutations related to certain types of cancers. It also provides insight into genes that may put you at more risk of developing cancer.

For a patient undergoing cancer treatment, your cancer specialist may want to understand if you have any inherited gene mutations. In these cases, genetic testing can help cancer specialists determine the best cancer treatment options specific to the tumor’s genomic profile.

With that said, only 5% to 10% of cancer cases are related to genetics. Genetic testing is only helpful in predicting certain types of cancers in a small percentage of people. You might be an ideal candidate for genetic testing if:

You have already been diagnosed with cancer that is known to be linked to a genetic mutation. Testing may give you peace of mind knowing if you have a genetic mutation that can affect other family members.
You have not been diagnosed, but have a family member with a cancer diagnosis that is known to be linked to a genetic mutation. Genetic testing may determine if you have inherited a gene that can make you more likely to develop certain types of cancer.

It is important to note that genetic testing is not the same as testing for the presence of cancer. Cancer genetic testing is for specific, hereditary cancer syndromes, or inherited mutations are known to increase your risk of developing cancer. Not all cancer types are proven to have a genetic link; therefore, genetic testing isn’t always the best option for some patients.

Technology is now available through Rocky Mountain Cancer Centers to run genetic tests. Genetic counselors will work with you to learn if you have any genetic mutations that are linked to a higher likelihood of developing certain types of cancer. These include:

Breast Cancer
Ovarian Cancer
Pancreatic Cancer
Melanoma
Prostate Cancer
Kidney Cancer
Leukemia
Thyroid Cancer
Stomach Cancer
Colon and Rectal Cancers
Sarcomas

If you receive a positive test result, it means that there is a specific genetic mutation associated with hereditary cancer syndromes. This may either confirm the diagnosis of a hereditary cancer syndrome or indicate an increased risk of developing certain cancers in the future. Because results can sometimes be confusing, we encourage you to reach out to your genetic counselor. They should address any questions or concerns you may have.

Inherited cancer syndromes develop because of mutations (abnormal changes) in genes that control cell growth and DNA repair. Inherited cancer syndromes are passed down from generation to generation. Typically, it’s unlikely that a single gene change will lead to cancer. In most cases, it takes multiple changes over a lifetime to cause cancer.

According to the National Cancer Institute, more than 50 hereditary cancer syndromes have been described. However, some hereditary cancer syndromes are much more common than others, such as Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome.

Hereditary Breast and Ovarian Cancer Syndrome

Inherited mutations in the BRCA1 and BRCA2 genes are linked to hereditary breast and ovarian cancer syndrome. Hereditary breast and ovarian cancer (HBOC) syndrome is a disorder associated with an increased risk of breast and ovarian cancers in women. Several other diseases, including pancreatic and prostate cancers, have been associated with HBOC syndrome as well as male breast cancer. Malignancies (or cancers) related to changes in these genes often occur at much earlier ages than most other cancer diagnoses.

BRCA1 and BRCA2 gene changes are fairly rare in the general population. Therefore, genetic testing is only recommended if individual or family history suggests the possible BRCA gene change.

Family history factors associated with an increased likelihood of having a BRCA gene change include:

Breast cancer diagnosed before age 50 years
Cancer in both breasts (bilateral disease)
Breast and ovarian cancers in either the same woman or in the same family of women
Ovarian cancer or fallopian tube cancer at any age
A male relative who has been diagnosed with male breast cancer
Triple-negative breast cancer at or before the age of 60
Ashkenazi Jewish ancestry with a personal or family history of breast cancer, ovarian cancer, or pancreatic cancer.

Lynch Syndrome

Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is an inherited cancer syndrome linked to a genetic predisposition to different cancer types. People with Lynch syndrome have a higher risk of certain types of cancer, such as colon cancer, endometrial cancer, ovarian cancer, brain cancer, and stomach cancer. Changes in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes are most commonly associated with Lynch Syndrome.

Two less common yet important examples of hereditary cancer syndromes include Li-Fraumeni and Cowden syndrome.

Li-Fraumeni Syndrome

The most commonly mutated gene in all cancers is TP53, which produces a protein that suppresses the growth of tumors. Also, germline mutations in the TP53 gene can cause Li-Fraumeni syndrome, which is a rare, inherited disorder that leads to a higher risk of developing certain cancers including breast cancer, soft tissue sarcoma, osteosarcoma (bone cancer), leukemia, brain tumors, and adrenocortical carcinoma (cancer of the adrenal glands).

Cowden Syndrome

PTEN is another gene that produces a protein that suppresses the growth of tumors. Mutations in this gene are associated with Cowden syndrome. This inherited disorder increases the risk of breast, thyroid, endometrial, and other types of cancer.

Our oncologists are here to help you determine if you are the right candidate for genetic testing at Rocky Mountain Cancer Centers. If you would like to learn more about whether genetic testing is the best choice for you or your loved ones, visit our Genetic Testing FAQs page.

What Type of Cancers Can you Genetic Test For?