Genes are inherited sequences of DNA that can make you more likely to have certain health conditions, such as cancer. A genetic risk assessment gives you details about your genes, helping you and your doctor take steps to be proactive by either reducing your changes of developing cancer or enhancing cancer screening to identify cancers early.
Prevention is the best medicine
When certain conditions run in your family, we’ll be here to support you like family. At Tufts Medicine, your physicians and genetic counselors will be here every step of your health journey, from learning more about your medical history to taking a genetic risk assessment and designing a personalized care plan.
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Conditions
With a genetic risk assessment, you can learn if your genes put you at a greater risk for developing any of these conditions.
Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome is a rare genetic disorder linked to noncancerous skin lesions called fibrofolliculomas. These lesions develop in the hair follicles on your face, neck and chest. People living with Birt-Hogg-Dubé syndrome may develop noncancerous and cancerous tumors on their:
- Skin
- Lungs
- Kidneys
Who should receive genetic counseling for Birt-Hogg-Dubé syndrome?
You should talk to your doctor about being referred for cancer genetic counseling for Birt-Hogg-Dubé syndrome if you meet any of these criteria:
- You have a collapsed lung or lung cysts
- You have more than one kidney cyst and/or tumor
- You have pale skin bumps on your face, ears, neck or upper body
- Someone in your family has Birt-Hogg-Dubé syndrome or any of the above symptoms
Familial adenomatous polyposis (FAP)
FAP is a hereditary disorder tied to cancers forming in the large intestine and rectum. Also known as hereditary colorectal cancer syndrome, FAP causes hundreds to thousands of polyps to develop in your colon.
While most polyps are noncancerous pieces of tissue, the ones caused by FAP can increase your lifetime risk of colon cancer to 100% without surgical intervention.
Who should receive genetic testing for FAP?
You should get tested for FAP if you have a personal or family history of multiple colon polyps or colon cancer.
Familial atypical multiple mole melanoma (FAMM) syndrome
People living with FAMM syndrome develop a large number of moles. As a result, this increases their lifetime risk of melanoma to over 90% and pancreatic cancer to 17%.
Who should receive genetic testing for FAMM syndrome?
You should get tested for FAMM syndrome if you have:
- A family history of any first- or second-degree relatives who have malignant melanoma
- Many moles, some of which are atypical (different sizes, raised and/or different shades of tan, brown, black or red)
Hereditary breast and ovarian cancer syndrome (HBOC)
HBOC can dramatically increase your lifetime risk of breast cancer and ovarian cancer. Risk varies from person to person, but can be as high as 87% for breast cancer and 44% for ovarian cancer.
Who should receive genetic testing for HBOC?
If you have a personal or family history of early-onset breast or ovarian cancer (at any age), you should get tested for HBOC.
Hereditary diffuse gastric cancer syndrome
Hereditary diffuse gastric cancer syndrome affects the stomach and increases a person’s lifetime risk of developing gastric cancer (also known as stomach cancer) by:
- 67% for men and assigned males at birth (AMAB)
- 83% for women and assigned females at birth (AFAB)
Women and AFABs have a 39% chance of developing a type of breast cancer that forms in the milk-producing glands (lobules), known as lobular breast cancer.
Who should receive genetic testing for hereditary diffuse gastric cancer syndrome?
You should get tested for hereditary diffuse gastric cancer syndrome if you have:
- A family history of gastric cancer (especially with a family history of LOBULAR breast cancer)
- A diagnosis of gastric cancer before age 40
Hereditary leiomyomatosis + renal cell cancer
Hereditary leiomyomatosis predisposes people to noncancerous and cancerous tumors of the kidney and uterus.
Who should receive genetic testing for hereditary leiomyomatosis and renal cell cancer?
You should get tested for hereditary leiomyomatosis and renal cell cancer if you have:
- A family history of fibroid tumors and kidney cancer
- Multiple skin leiomyomas
Hereditary retinoblastoma
People living with hereditary retinoblastoma have an increased risk of forming a type of eye cancer in their retinas. The retina is a layer of nerve tissue at the back of your eye that helps you see. Hereditary retinoblastoma can lead to the development of other cancers later in life.
Who should receive genetic testing for hereditary retinoblastoma?
If anyone in your family has had hereditary retinoblastoma, you should get tested for this condition.
Juvenile polyposis
Juvenile polyposis causes multiple noncancerous colon polyps to develop early in life. These polyps are growths of extra tissue in the colon. People with these polyps have a 39% increased risk of developing colon cancer and a 21% increased risk of forming other gastrointestinal cancers.
Who should receive genetic testing for juvenile polyposis?
If you have one or any of the following factors, you should get tested for juvenile polyposis:
- A family history of juvenile polyps
- Any number of juvenile polyps (most commonly in the colon, rectum or digestive tract)
Li-Fraumeni syndrome (LFS)
LFS increases a person’s lifetime risk of forming various types of cancer to approximately:
- 75% in men and assigned males at birth (AMAB)
- 100% in women and assigned females at birth (AFAB)
LFS predisposes people to many types of cancer, including:
- Bone and soft tissue cancers
- Brain tumors
- Cancer of the adrenal gland
- Early-onset breast cancer (often before age 30)
Who should receive genetic testing for LFS?
Talk with your doctor about getting tested for LFS if:
- You've been diagnosed with sarcoma before age 45
- An immediate family member or second-degree relative was diagnosed with any cancer before age 45
- An immediate family member or second-degree relative was diagnosed with sarcoma at any age
Lynch syndrome
Lynch syndrome is a hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Lynch syndrome increases your risk of developing one or more cancers that affect your:
This inherited disorder increases your risk of developing many types of cancer, particularly colorectal cancers. Lynch syndrome can increase your lifetime risk for colon cancer to about 80% and your lifetime risk for uterine cancer to about 60%.
Who should receive genetic testing for Lynch syndrome?
People should receive genetic testing for Lynch syndrome if they have a personal or family history of:
- Early-onset colon and uterine cancer
- Multiple colon, uterine and related cancers
Multiple endocrine neoplasia syndrome
Multiple endocrine neoplasia syndrome can increase your risk for the following conditions:
- Neuroendocrine tumors
- Thyroid cancer
- Oral cancer
- Gastrointestinal tumors
Who should receive genetic testing for multiple endocrine neoplasia syndrome?
If anyone in your family has multiple endocrine neoplasia syndrome, you should get tested.
Peutz-Jeghers syndrome (PJS)
PJS is a hereditary colorectal cancer syndrome that causes polyps (growths of extra tissue) to form throughout the small intestine. PJS significantly increases your risk for developing cancers that affect the:
Who should receive genetic testing for PJS?
People should receive genetic testing for PJS if they have a personal or family history of:
- Blue or brown spots on the lips, cheeks and fingertips
- Hamartomatous colon polyps
PTEN hamartoma tumor syndrome (PHTS)
PHTS is a hereditary breast and ovarian cancer syndrome caused by a defect in the gene called PTEN. This defect is linked to a handful of related syndromes, like Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which cause noncancerous growths called hamartomas to form in the body.
People with PHTS are at a higher risk for developing:
- Breast cancer
- Thyroid cancer
- Uterine cancer
Who should receive genetic testing for PHTS?
We recommend getting tested for PHTS if you meet both criteria:
- You have a personal or family history of macrocephaly (a larger-than-average head size) and skin lesions.
- You also have a personal or family history of breast, thyroid and uterine cancer.
Testing
Before moving forward with genetic testing, your doctor will sit down with you to review your personal and family medical histories. Together, you can decide if genetic testing is right for you.
While anyone can take a genetic risk assessment, we highly recommend you get one if you have had any of the following:
- 2 different types of cancer or 2 episodes of the same cancer
- Cancer before 50 years of age
- Cancer within your family
- Multiple family members with the same type of cancer
Treatments
A genetic risk assessment can’t guarantee if you’ll actually develop cancer and when that might be — it will only shed light on if your genes put you at an increased risk of developing cancer.
Our specialized care teams are here to help you confidently approach the uncertainties that genetic risk assessment testing will address. We’ll assemble a lineup of specialists representing cancer, obstetrics and gynecology, radiology and gastroenterology to meet you where you are in your care journey. Together, they'll work with your genetic specialist.
Genetic specialists are experts in understanding how genes play a role in disease and using the best available testing to find any potential genetic links to a disease.
Preventative care
To help lower your chance of developing specific cancers, we can turn to:
- Cancer screenings such as colonoscopies, mammograms and breast MRIs at an increased frequency
- Preventative medications (chemoprevention)
- Surgical interventions
Think of preventive care as being proactive in your health rather than reactive. Together, we can regain control of your future by putting your health first today.
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