Associated with Familial Adenomatous Polyposis

Cancer Risks

For Men and Women: Colon Cancer

Additional cancer risks: desmoid tumors, hepatoblastoma, a retinal condition called CHRPE, thyroid cancer, bone tumors (osteomas), and upper bowel polyps

No association to prostate cancer at this time

Screening and Management

Colon cancer: Individuals with APC mutations should begin screening with colonoscopies at a young age (10-15 years) and have them done yearly. As people get older, complete removal of the colon may be recommended.

There are also recommendations for screening to reduce the risk of the other cancers that can occur in people with FAP or attenuated FAP. Talk to your doctor about these additional recommendations.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Colon Cancer

No association to prostate cancer at this time.

Screening and Management

Colon cancer: Mutations in this gene have been associated with colorectal cancer as well as lack of proper formation of teeth. There are no current recommendations for screening for colorectal cancer based upon AXIN2 mutations. Colon cancer screening recommendations are usually based upon personal and family history.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Melanoma (eye and skin), Mesothelioma (lining of lungs), Kidney Cancer

Screening and Management

Eye melanoma: Individuals with BAP1 mutations are recommended to see an ophthalmologist for detailed eye exams.

Skin melanoma: Recommendation to see a dermatologist for yearly (or more frequent) skin exams

Mesothelioma: No current screening guidelines exist. Patients can talk to their doctors about options for imaging or trials.

Kidney cancer: No current screening guidelines exist, though imaging may be considered. Talk to your doctor about options.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Neuroblastoma

For Women: Risk of ovarian cancer and breast cancer.

Screening and Management

Prostate cancer: Men with metastatic, castration-resistant prostate cancer may be considered for targeted therapy

Breast and ovarian cancer: There are no current recommendations for cancer screenings based on the BARD1 mutation. Recommendations are based on personal and family history.

Neuroblastoma: There may be consideration to have yearly neurologic exams.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

Associated with Bloom Syndrome

For Men and Women: Colon Cancer

For Women: Female Breast Cancer

No association to prostate cancer at this time

Screening and Management

There are no current recommendations for cancer screenings based on BLM mutations. Screening recommendations are based upon personal and family history.

Reproductive: There are no current recommendations for cancer screenings based on BLM mutations. Screening recommendations are based upon personal and family history.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Colon Cancer

No association to prostate cancer at this time.

Screening and Management

Colon Cancer: Associated with juvenile polyposis syndrome. Screening for colorectal / colon cancer is recommended to begin around the age of 15, with ongoing screening.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Women: Ovarian Cancer

For Men: No current increase in prostate cancer risk known.

Screening and Management

Prostate cancer: Men with metastatic, castration-resistant prostate cancer may be considered for targeted therapy.

Ovarian Cancer: Current recommendations include consider removal of the ovaries at age 45-50.

Additional recommendations are based upon personal and family history.

Cancer Risks

Stomach cancer (men and women), breast cancer (women only)

No association to prostate cancer at this time.

Screening and Management

Breast Cancer: An annual mammogram is recommended, possibly considering breast MRI at age 30. Risk-reducing mastectomy may be considered based upon personal and family history.

Stomach Cancer: Due to the high risk of stomach cancer, discussion of removal of the stomach is conducted.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Pancreatic cancer, melanoma

No association to prostate cancer at this time.

Screening and Management

Melanoma: Full body skin exams every 6-12 months.

Pancreatic Cancer: There are no current recommendations for pancreatic cancer, though imaging of the pancreas is available. Individuals may consider discussion with a high-risk gastroenterologist.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Colon Cancer

No association to prostate cancer at this time.

Screening and Management

Colon Cancer: Colonoscopy is recommended starting at age 25-30.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Colon Cancer

For Men: No association to prostate cancer at this time.

Screening and Management

Colon Cancer: Colonoscopy recommendations are based on the mutation status and family history of colon cancer. First colonoscopy may be recommended beginning at age 40 or 10 years prior to a first-degree relative’s age of colorectal cancer and continued every 5 years.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Colon Cancer

For Men: No association to prostate cancer at this time.

Screening and Management

Colon Cancer: Colonoscopy is recommended to begin at age 25-30 and proceed according to findings.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Associated with Cowden syndrome

Cancer Risks

For Men and Women: Thyroid Cancer, Colon Cancer, Kidney Cancer, and Melanoma;

For Women: Uterine Cancer, Breast Cancer

No association to prostate cancer at this time.

Screening and Management

Breast Cancer: Screening may be recommended beginning at age 30-35. Addition of breast MRI to mammogram can also be considered.

Thyroid Cancer: Annual thyroid ultrasound can be recommended from childhood.

Colon Cancer: Colonoscopy can be recommended starting at age 35.

Kidney Cancer: Renal ultrasound may be recommended at age 40.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men: No current increase in prostate cancer risk known.

For Women: Ovarian Cancer

Screening and Management

Prostate cancer: Men with metastatic, castration-resistant prostate cancer may be considered for targeted therapy.

Ovarian Cancer: Removal of the ovaries may be considered at age 45-50.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men and Women: Colon cancer

No association to prostate cancer at this time

Screening and Management

Colon Cancer: Colorectal cancer screening is recommended beginning at age 15, with ongoing screening based on polyp findings.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

For Men: No association to prostate cancer at this time.

For Women: Breast cancer

Screening and Management

Breast Cancer: There are currently no guidelines for breast cancer screening based upon mutations on these genes.

Recommendations are based upon a patient’s personal and family history.

Cancer Risks

For Men and Women: Colon cancer, stomach, pancreas, small intestine.

For Women: Breast Cancer, Ovarian cancer (sex cord type)

For Men: Testicular Cancer

No association to prostate cancer at this time.

Screening and Management

Colon Cancer: Colonoscopy every 2-3 years starting in the teen years.

Breast Cancer: Mammogram and breast MRI is recommended annually starting at age 25.

Ovarian Cancer: Pelvic exams and transvaginal ultrasound may also be performed starting in the teen years.

Testicular Cancer: Annual testicular exam starting at age 10.

Pancreatic Cancer: MRCP or endoscopic ultrasound every 1-2 years starting age 30-35 may be considered.

Stomach Cancer: Upper endoscopy starting in the late teens.

Small intestinal Cancer: Upper endoscopy starting at age 8-10.

Additional recommendations are based upon a patient’s mutation, personal and family history.

Cancer Risks

Associated with Li-Fraumeni Syndrome

For Men and Women: Sarcomas, brain tumors, and adrenocortical carcinoma; multiple other cancers may also be associated, including hematologic malignancies, female breast cancer typically at very young age.

No clear association with Prostate Cancer at this time.

Screening and Management

It is important for a patient with a TP53 mutation to be followed in a specialty clinic with expertise in Li-Fraumeni syndrome management. Multiple screening tests and imaging are needed starting at young ages. A few of the cancers and screening are shown below, but many other recommendations also exist:

Breast Cancer: Screening is recommended beginning at age 20-29. Can discuss risk-reducing mastectomy.

Colon Cancer: Colonoscopy recommended starting at age 25.

For other cancer risks: Annual whole body MRI

Brain tumors: Annual brain MRI

Additional recommendations are based upon a patient’s mutation, personal and family history