Genetic Risk Assessment

At Maryland Oncology Hematology, we provide comprehensive medical care and support services for people diagnosed with cancer or those at a higher risk of developing cancer.  Our integrated team comprised of oncologists, nurse practitioners and nurse specialists have received special training related to inherited cancers and are available to help you understand your level of risk and provide personalized medical recommendations based on personal and/or family history of cancer.

Approximately 5-10% of cancers are inherited.  Changes in a particular gene can be passed down from a parent and are associated with a higher lifetime risk of cancer.  Features suggestive of hereditary cancer include:

  • Any individual diagnosed with cancer prior to age 50
  • Any individual who has developed more than one cancer
  • Any individual with a rare type of cancer (ovarian, male breast cancer, pancreatic)
  • An individual with two or more family members diagnosed with the same cancer
  • A family member with an identifiable gene mutation known to increase the risk of cancer
  • Ashkenazi Jewish ancestry with a personal or family history of  cancer

If you or your family has these features, it is important to review this information with your doctor and to schedule an appointment with our team for a more in-depth discussion regarding genetic counseling

Genetic Testing: Types of Cancer

Every cancer, like every patient, is different – and genetic testing can provide valuable  information about gene mutations related to certain types of cancers. Understanding more about inherited gene mutations can help oncologists provide better cancer treatment specific to the genomic profile of the tumor for a patient undergoing treatment. It can also provide insight to genes that may put you at more of risk for developing cancer in the future.

Genetic testing can be beneficial whether you have been diagnosed with cancer or a family member received the diagnosis.

  • Those who have been diagnosed may choose to be tested to see if their cancer was caused by a genetic mutation that can affect other family members.
  • People who have not been diagnosed, but have a family member with a cancer diagnosis, may be able to find out if they have inherited a gene that can make them more likely to develop certain types of cancer.

It is important to remember that genetic testing is not testing for cancer itself, but rather for specific inherited mutations or hereditary cancer syndromes that can increase your risk of  getting the disease.  And not all types of cancer are proven to have a genetic link, which means that genetic testing isn’t always an option.

Technology is now available through Maryland Oncology Hematology to run a genetic test to determine if you or your family members have a genetic mutation that may make it more likely to develop one of the following types of cancer:

  • Breast Cancer
  • Ovarian Cancer
  • Pancreatic Cancer
  • Melanoma
  • Prostate Cancer
  • Kidney Cancer
  • Leukemia
  • Thyroid Cancer
  • Endometrial Cancer
  • Liver Cancer
  • Brain Cancer
  • Stomach Cancer
  • Colon and Rectal Cancers
  • Sarcomas

A positive test result means that there is a specific genetic mutation that is associated with a hereditary cancer syndrome. This may either confirm the diagnosis of a hereditary cancer syndrome or indicate an increased risk of developing certain cancers in the future.

According to the National Cancer Institute, more than 50 hereditary cancer syndromes have been described. The most common ones include:

  • Hereditary breast cancer and ovarian cancer syndrome
    • Genes: BRCA1, BRCA2
    • Related cancer types: Female breast, ovarian, and other cancers, including prostate, pancreatic, and male breast cancer
  • Li-Fraumeni syndrome
    • Gene: TP53
    • Related cancer types: Breast cancer, soft tissue sarcoma, osteosarcoma (bone cancer), leukemia, brain tumors, adrenocortical carcinoma (cancer of the adrenal glands), and other cancers
  • Cowden syndrome (PTEN hamartoma tumor syndrome)
    • Gene: PTEN
    • Related cancer types: Breast, thyroid, endometrial (uterine lining), and other cancers
  • Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    • Genes: MSH2, MLH1, MSH6, PMS2, EPCAM
    • Related cancer types: Colorectal, endometrial, ovarian, renal pelvis, pancreatic, small intestine, liver and biliary tract, stomach, brain, and breast cancers
  • Familial adenomatous polyposis
    • Gene: APC
    • Related cancer types: Colorectal cancer, multiple non-malignant colon polyps, and both non-cancerous (benign) and cancerous tumors in the small intestine, brain, stomach, bone, skin, and other tissues
  • Retinoblastoma
    • Gene: RB1
    • Related cancer types: Eye cancer (cancer of the retina), pinealoma (cancer of the pineal gland), osteosarcoma, melanoma, and soft tissue sarcoma
  • Multiple endocrine neoplasia type 1 (Wermer syndrome)
    • Gene: MEN1
    • Related cancer types: Pancreatic endocrine tumors and (usually benign) parathyroid and pituitary gland tumors
  • Multiple endocrine neoplasia type 2
  • Von Hippel-Lindau syndrome
    • Gene: VHL
    • Related cancer types: Kidney cancer and multiple non-cancerous tumors, including pheochromocytoma

At Maryland Oncology Hematology, our oncologists are here to help you determine if you are a good candidate for genetic testing. To learn more, please contact us to schedule an appointment with our team for a more in-depth discussion regarding genetic risk assessment and counseling.