Cancer Center

Genetic Risk Assessment

Know Your Cancer Risk

About five to 10 percent of all cancer is due to inherited genetic mutations that can predispose you to certain types of tumors, such as colon, breast or ovarian cancer. Considering your cancer risk can be stressful, but knowing your personal health profile can empower you to stay healthy throughout your lifetime.

At the Genetic Risk Assessment Program at the Cancer Center at Tufts Medical Center, our experienced physicians and genetic counselors provide comprehensive testing and counseling to help you understand your cancer risk and preventative options.

Genetic testing is complex, and the results can be hard to understand. Our goal is to give you the information you need to make informed decisions about what's best for you and your family.

Should I Get Tested?

Our experts recommend genetic risk assessment for patients who have had:

  • Cancer before 50 years of age
  • Two different types of cancer or two episodes of the same cancer
  • Multiple family members with the same type of cancer
  • Cancer in certain combinations within their family

Prior to testing, your genetics professional will sit down with you to review your personal medical history and your family's medical history going back several generations. Then you'll decide together if genetic testing is right for you.

What If I Have an Inherited Predisposition?

There are many options for patients who learn that they have an increased cancer risk due to their genetics. Our team works closely with Tufts MC doctors in areas such as the Cancer Center, Obstetrics and Gynecology, Radiology and Gastroenterology so that we can present you with a range of personalized, state-of-the-art options for managing your cancer risk.

Risk-reduction options may include:

  • Screenings such as colonoscopies and mammograms at an increased frequency
  • Surgical interventions
  • Preventative medications (chemoprevention)

After testing, your doctor and genetic counselor work with you to develop a preventative care plan that's personalized to your health history and risk profile.

Does Insurance Cover Predictive Testing?

At Tufts MC, we're committed to keeping health care affordable so you can live the healthy life you deserve.

Insurance coverage for genetic testing varies. We can work with you and your health insurance provider to determine what's covered under your plan and keep the cost for genetic testing as low as possible.

 

Name

What Is It?

Who Should Be Tested?
Hereditary
Colon
Cancer
Syndromes		 Lynch syndrome
(hereditary non-polyposis colorectal cancer syndrome)		 Lynch syndrome increases your risk of developing cancers of the:
  • Colon
  • Uterus and ovaries
  • Stomach and intestines
  • Brain
  • Kidneys and ureters
  • Bile ducts
Lynch syndrome can increase your lifetime risk for colon cancer to about 80% and your risk for uterus cancer to about 60%.		 People with a personal or family history of:
  • Early-onset colon and uterine cancer
  • Multiple colon, uterine and related cancers
Familial adenomatous polyposis (FAP) FAP causes the development of hundreds to thousands of colon polyps, increasing the lifetime risk of colon cancer to 100% without surgical intervention. People with a personal or family history of colon polyps or colon cancer
Peutz-Jeghers syndrome (PJS) PJS causes polyps to grow throughout the small intestine and significantly increases your risk for cancers of the:
  • Gastrointestinal (GI) tract
  • Breast
  • Ovaries
People with a personal or family history of:
  • Hamartomatous colon polyps
  • Blue to brown spots of the lips, cheeks and fingertips
Hereditary
Breast &
Ovarian
Cancer
Syndromes		 Hereditary breast and ovarian cancer syndrome (HBOC) HBOC can dramatically increase your lifetime risk of breast and ovarian cancer. Risk varies from person to person, but can be as high as 87% for breast cancer and 44% for ovarian cancer. Men and women with a personal or family history of early-onset breast and/or ovarian cancer
PTEN hamartoma tumor syndrome (PHTS) PHTS includes Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which both cause the growth of benign tumors (hamartomas). People with PHTS are at a higher risk for developing breast, thyroid and uterine cancer. People with a personal or family history of large heads and skin lesions in combination with breast, thyroid and uterine cancer
Additional
Hereditary
Cancer
Syndromes		 Birt-Hogg-Dubé syndrome is characterized by benign skin tumors, lung cysts and benign and malignant kidney tumors.

Familial atypical multiple mole melanoma causes patients to develop a large number of moles and increases the lifetime risk of skin cancer to over 90% and of pancreatic cancer to 17%. Hereditary diffuse gastric cancer syndrome raises the lifetime risk of gastric cancer to 67% in men and 83% in women; women also have a lifetime risk of 39% for lobular breast cancer.

Hereditary leiomyomatosis and renal cell cancer predisposes people to benign and malignant tumors of the kidney and uterus. Hereditary retinoblastoma predisposes patients to malignancies of the retina and, later in life, to other forms of cancer.

Juvenile polyposis causes multiple benign colon polyps that develop early in life. People with these polyps have a 39% increased risk of colon cancer and a 21% increased risk of other GI tract cancers.

Li-Fraumeni syndrome (LFS) increases the lifetime risk of cancer to approximately 75% in men and 100% in women. LFS predisposes patients to many types of cancer, including early-onset breast cancer (often before age 30), bone and soft tissue cancers, brain tumors and cancer of the adrenal gland. Multiple endocrine neoplasia syndrome, divided into several types, can increase risk for certain types of neuroendocrine tumors, thyroid cancer, oral cancer and gastrointestinal tumors.

Von Hippel-Lindau syndrome (VHL) predisposes patients to kidney cancer, tumors of the central nervous system, neuroendocrine tumors and other tumors and cysts. Almost everyone who has VHL will develop features of the condition.

Primary care physicians play an important role in the prevention and early diagnosis of cancer — especially for patients with a genetic cancer predisposition syndrome. We value our relationship with PCPs, and we're committed to communicating with you throughout the genetic testing process.

We have provided this helpful Cancer Risk Assessment questionnaire  that you can give to your patient or refer to during their visit to determine if they need to be referred to our Cancer Genetics program. Please feel free to contact us if you have questions as to whether or not your patient is an appropriate candidate for genetic counseling.