Genetic Mutations and Cancer Risk

Author: OncoLink Team
Last Reviewed:

This article provides an introduction to some of the more common genetic mutations associated with cancer risk and development.

BRCA 1 & 2

The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. If you have inherited a mutated copy of BRCA1 from a parent, you have an estimated 72% risk of developing breast cancer by the age of 80. For women who have inherited the BRCA2 gene, there is a 69% risk. People with these mutations tend to develop cancer at a younger age (before age 40) and cancers more often affect both breasts. People with these inherited mutations also have an increased risk for developing other cancers, particularly ovarian cancer, but also male breast cancer, pancreatic cancer, and prostate cancer. BRCA mutations occur more commonly in individuals of Ashkenazi Jewish (Eastern European) decent, Norwegian, Dutch, and Icelandic populations. However, they can occur in any racial or ethnic group.

If you know that you have a BRCA 1 or BRCA2 mutation, you should talk to a healthcare provider to make sure you receive the proper screening or treatment (chemoprevention). Proper screening can detect cancer at an earlier stage when treatment is most effective. Receiving appropriate treatment can reduce the chance of developing cancer. Your healthcare provider may recommend getting mammograms and breast MRI at a younger age, special breast and/or ovarian cancer screening tests, or other interventions, such as, prophylactic (preventative) surgery or chemoprevention.

Learn more about BRCA mutations and cancer risk on OncoLinkBreast Cancer.org, the National Cancer InstituteThe Basser Research CenterMemorial Sloan Kettering CC and FORCE. Learn more about screening recommendations at OncoLink. 

Hereditary Non-Polyposis Colon Cancer (HNPCC)

HNPCC, also known as Lynch syndrome, is caused by an inherited mutation in any one of several genes which help to repair DNA damage. About 3-5% of all colorectal cancers occur in people with HNPCC, with most of these cancers occurring before the age of 50. The lifetime risk of colorectal cancer is estimated to be as high as 80% in people with HNPCC.

People with HNPCC may develop polyps at the same rate as others, but these polyps are more likely to become cancer and in a shorter period of time. It is important that people with HNPCC begin having colonoscopies at age 20-25 and that colonoscopy is repeated every 1-2 years as colon cancer can occur at an earlier age and more rapidly in this population.

Women with HNPCC also have a very high risk of developing cancer of the endometrium (lining of the uterus). The estimated lifetime risk for endometrial cancer in these women is up to 70%. It is recommended that women with HNPCC have an annual endometrial biopsy starting at 35. HNPCC carriers also have a higher risk of several other cancers, including gastric, ovarian, small intestine, bile duct, pancreas, brain and ureter cancers. Learn more about screening for other high risk cancers on OncoLink.

Learn more about HNPCC and colon cancer on OncoLink, the National Cancer InstituteMemorial Sloan Kettering CC and Mt. Sinai Hospital.

Familial Adenomatous Polyposis (FAP)

FAP is caused by a mutation in the APC gene, which is most often inherited from a parent. However, in 25% of cases it occurs without a family history. About 1% of all colorectal cancers are diagnosed in people with FAP. People with FAP typically develop hundreds or thousands of polyps in their colon and rectum. This begins in their teens or early adulthood, sometimes as early as 10 years old. Cancer usually develops in 1 or more of these polyps as early as age 20. By age 40, almost all people with FAP will have developed colorectal cancer if preventive colectomy (surgery to remove the colon) is not done. For this reason, most providers recommend colectomy at a young age for cancer prevention in individuals with FAP. Several other cancers are associated with FAP, including stomach, small intestines, pancreas, liver and other organs.

Learn more about FAP and colorectal cancer on OncoLink, the National Library of Medicine and Mt. Sinai Hospital.

References

American Cancer Society. Colorectal Cancer Risk Factors. 2018. 

American Cancer Society. Endometrial Cancer Risk Factors. 2019. 

Cleveland Clinic. Familial Adenomatous Polyposis (FAP). 2019.  

National Cancer Institute. BRCA Mutations: Cancer Risk and Genetic Testing. 2018. 

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