Hereditary Cancer

About 5-10% of cancer is hereditary and due to a genetic mutation. Individuals who are at risk for hereditary cancer may have one or more of the red flags listed below:

  • Cancer diagnosed at an early age

  • Cancer in two or more closely related relatives

  • Multiple generations in the family with cancer

  • Multiple primary tumors in one person

  • Bilateral or rare cancers

  • Constellation of tumors consistent with a specific cancer syndrome

  • Certain ethnic backgrounds (e.g., Ashkenazi Jewish ancestry)

Individuals who have a mutation in a cancer predisposition gene have a higher risk for developing certain types of cancer. Examples of hereditary cancer syndromes include: BRCA-Related Breast and/or Ovarian Cancer Syndrome, Lynch Syndrome, Li-Fraumeni Syndrome, or Familial Adenomatous Polyposis. One gene can be associated with several different cancers, and one cancer can be caused by several different genes.

BRCA-Related Breast and/or Ovarian Cancer Syndrome

BRCA-Related Breast and/or Ovarian Cancer syndrome is the most common cause of hereditary breast and ovarian cancer. It is caused by genetic mutations in the BRCA1 and BRCA2 genes. Individuals who carry these mutations are at a higher risk for developing certain types of cancer. Compared to the general population, patients with a pathogenic BRCA mutation have a greatly increased risk of developing cancer by age 70—up to a 65% risk of breast cancer and up to a 39% risk of ovarian cancer. Male BRCA1 carriers have an increased risk of prostate cancer while male BRCA2 carriers have a 20-34% lifetime risk of prostate cancer. Individuals with a BRCA mutation are also at an increased risk for developing pancreatic cancer and melanoma.

Published management guidelines for individuals with BRCA-Related Breast and/or Ovarian Cancer syndrome provide recommendations for changing a patient’s medical management in order to decrease the risk of associated cancers. The available options can be individualized and may include increased surveillance, surgery, and/or chemoprevention.

Lynch Syndrome

Lynch syndrome (LS) is the most common cause of hereditary colon and uterine cancer. It is caused by genetic mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes.  Compared to the general population, patients with a pathogenic mutation in one of these genes have a greatly increased risk of developing cancer. The cancer risks vary depending on the specific gene that is mutated.  By age 70, there is a 15-82% risk of colorectal cancer, a 15-60% risk of endometrial cancer, and up to a 24% risk of ovarian cancer. Individuals with LS are also at an increased risk for developing gastric, hepatobiliary, urinary tract, small bowel, brain, skin, and pancreatic cancers.

Published management guidelines for individuals with Lynch syndrome provide recommendations for changing a patient’s medical management in order to decrease the risk of associated cancers. The available options can be individualized and may include increased surveillance, surgery, and/or chemoprevention.

Genetic Counseling

Genetic counselors can be a valuable resource for you and your patients. If you have questions about which test is most appropriate for your patient or how to interpret your patient’s test results, our genetic counseling team, available through one of our parent companies - Quest Diagnostics, is here to help. We are available Monday-Friday from 8:30 am to 8:00 pm EST by calling 1.866.GENE.INFO (1.866.436.3463).

We are also dedicated to connecting your patients with a genetic counselor when needed. To refer your patient to a genetic counselor, please visit the National Society of Genetic Counselors’ website or you may call us at 1.866.GENE.INFO (1.866.436.3463) and we will help you locate a genetic counselor in your area.

Financial Assistance and Support Programs

We offer in-house payment plans which grant patients up to five monthly installments to pay off the balance owed. We've also partnered with CarePayment to offer financing options to patients who would like to consolidate multiple personal and family accounts into one affordable monthly installment over an extended period of time. For patients who qualify based on the Federal income poverty guidelines, we also offer a sliding scale Patient Financial Assistance Program. For additional information please contact our customer service department at (800) 853-4288 or visit our Billing Services page.

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