Read about different genes that are linked to hereditary cancer, their associated risks and guidelines for screening, preventing and treating cancers in people with inherited mutations in these genes.
Risk management for people with inherited mutations
The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women 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.
Breast cancer screening
- Learning to be aware of changes in breasts beginning at age 18.
- Clinical breast exam every 6-12 months beginning at age 25 (or 10 years earlier than the youngest age of onset in the family).
- Annual with consideration of and breast with contrast beginning at age 30-35 (or 5-10 years earlier than the youngest breast cancer in the family).
- Women should have a discussion with their doctors about of the advantages and disadvantages of risk-reducing mastectomy.
- Research has shown that risk-reducing mastectomy can effectively lower the risk for breast cancer in high risk women by about 90%. Despite this, mastectomy has not been shown to improve overall survival for high risk women. Even after mastectomies, some breast tissue-and therefore some breast cancer risk remains.
- Women should be educated on the possible symptoms of ovarian or uterine cancer. They should immediately report any unusual vaginal bleeding, pelvic or abdominal pain, bloating, increased abdominal girth, difficulty eating, or increased urinary frequency or urgency to health care providers
- Women should keep a calendar of their menstrual cycle and note any irregular bleeding or any postmenopausal bleeding.
- Consider endometrial biopsy every 1 to 2 years beginning at age 35.
- Consider transvaginal for postmenopausal women.
- Consider hysterectomy after childbearing is complete.
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.
- NCT04770246: Using TAS-117 to Treat Advanced with Inherited Mutations. This study will look at how well the TAS-117 works for treating people with an inherited mutation and advanced or (excluding primary brain tumors).
- NCT02401347: Beyond (TBB) Trial. The goal of the study is to evaluate the anti-cancer activity of (a type of treatment known as a ) in patients with advanced breast cancer with specific genetic mutations based on a blood, saliva, or tumor test. This study is open to people with inherited mutations , , , , , , , , , and other genes.
- 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.