MLH1: Cancer Risks
Cancer Risk Associated with Inherited Mutations
People with an mutation have . mutations increase the risk for colorectal, endometrial and other types of cancer listed in the table below.
Experts at the National Comprehensive Cancer Network (NCCN) created guidelines which estimate the cancer risks for people with mutations. These cancer risk estimates are updated based on the latest research.
It is important to note that cancer risks are estimates over the course of a person's lifetime. Your lifetime risk and risk over the next five years will vary depending on your:
- current age.
- sex assigned at birth.
- specific mutation.
- personal and family health history.
- diet, exercise, lifestyle and other factors.
If you or a relative have tested positive for an mutation, we recommend speaking with a genetics expert. They can look at your personal and family medical history to help you understand and decide on a plan for managing your risk.
Cancer risk table
|
Cancer Type
|
Lifetime Risk with Mutation
|
Lifetime Risk in General Population
|
Average Age of Diagnosis with Mutation
|
Average Age of Diagnosis in General Population
|
|
Colorectal
|
46 - 61%
|
4%
|
44 years
|
68 - 72 years
|
|
Endometrial
|
34 - 54%
|
3.1%
|
49 years
|
60 years
|
|
Ovarian
|
4 - 20%
|
1.1%
|
46 years
|
63 years
|
|
Kidney/ureter
|
up to 5%
|
1.8%
|
59 - 60 years
|
Not specified
|
|
up to 13.8%
|
12.8%
|
63 years
|
66 years
|
|
|
Bladder
|
up to 7%
|
2.2%
|
59 years
|
73 years
|
|
Gastric
|
5 - 7%
|
0.8%
|
52 years
|
68 years
|
|
Small bowel
|
0.4 - 11%
|
0.3%
|
47 years
|
60s - 70s
|
|
Brain
|
0.7 - 1.7%
|
0.6%
|
No data
|
59 years
|
|
Biliary tract
|
1.9 - 3.7%
|
No data
|
50 years
|
70 - 72 years
|
|
Pancreatic
|
6.2%
|
1.7%
|
No data
|
71 years
|
|
Source: NCCN Guidelines: Genetic/Familiar High-Risk Assessment: Colorectal, Endometrial, Esophageal, and Gastric; v.1 2026.
|
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Other cancers associated with mutations
People with an inherited mutation may have an increased risk for other cancers. The exact risks for the following cancers are unknown:
- sebaceous skin growths
- breast cancer
Research on how inherited mutations in the gene affect cancer risk is ongoing.
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