Risk management for people with inherited mutations
The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for people with inherited mutations. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you determine the best risk management plan. You can learn more about risk management options in our section on Screening and Risk Reduction by Cancer Type. Note that when we use "men" and "women" we are referring to the sex you were assigned at birth.
Breast cancer screening
- Learn to be aware of changes in your breasts beginning at age 18.
- Breast exam by doctor every 6-12 months beginning at age 25 (or 10 years earlier than the youngest age of onset in the family).
- Yearly and breast with contrast beginning at age 30-35 (or 5-10 years earlier than the youngest breast cancer in the family).
Have a discussion with your doctor about of the benefits and risks of double mastectomy.
- Risk-reducing mastectomy can lower the risk for breast cancer by about 90%. Despite this, mastectomy may not increase your overall survival.
- Even after double mastectomy, some breast tissue is left over, and therefore some breast cancer risk remains after surgery.
- Tamoxifen and other estrogen-blocking drugs may reduce breast cancer risk in women with mutations, but more research is needed to prove this.
- Symptom awareness and biopsy: Endometrial cancer can often be caught early based on symptom awareness followed by a biopsy. Be aware of endometrial cancer symptoms and immediately report any of the following to your doctor:
- unusual vaginal bleeding
- pelvic or abdominal pain
- bloating or distended belly
- difficulty eating
- increased urination or pressure to urinate
- Keep a calendar of their menstrual cycle and note any irregular bleeding or any postmenopausal bleeding.
- Have a conversation with your doctor about the benefits, risks and costs of each of the following options:
- hysterectomy (surgical removal of the uterus)
- endometrial biopsy every 1 to 2 years beginning at age 35
- if you are postmenopausal, yearly screening with transvaginal
The National Comprehensive Cancer Network (NCCN) guidelines recommend:
- Annual comprehensive physical exam beginning at age 18 or 5 years earlier than the earliest cancer diagnosis in a family.
- Annual thyroid beginning at age 7.
- Colonoscopy beginning at age 35 unless symptomatic or if a close blood relative had colon cancer before age 40. Continue screening every 5 years.
- Consider renal beginning at age 40 then every 1-2 years.
- Annual skin exams.
- Consider psychomotor assessment in children at diagnosis and brain if there are symptoms.
There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a mutation. For this reason, experts recommend managing other cancer risks based on family history. Cancer screening and prevention research studies may be available for people with mutations.
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
The following are studies enrolling people with inherited mutations.
- NCT04042831: in Treating Patients With Biliary Tract Cancer With Aberrant Repair Gene Mutations. This study will look at how well the drug works in treating people who have been diagnosed with biliary tract (bile duct) cancer that has spread to other places in the body and who also have an inherited or tumor mutation in certain genes, including .
- NCT04586270: A Study of TAS0612 for Treating People with Advanced or Cancers. The purpose of this study is to see if TAS0612 is safe in participants with advanced or solid tumor cancer.
- NCT04094675: Sirolimus for With Colon Polyposis. This study is looking at the effect of the drug sirolimus on the number of colon in patients with and polyposis over a 1 year period.
- NCT02665195: Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes.