Cancer risk associated with inherited mutations

If you have tested positive for an mutation, we recommend speaking with a genetics expert who can look at your personal and family history of cancer, and can help you decide on the best risk management plan.

cancer risks include the following:

*Risk for cancer in people with an mutation. Source: NCCN: Genetic/Familiar High-Risk Assessment: Colorectal Version 1.2022*
Cancer type	Lifetime risk with for people with mutation	Lifetime risk for people in general population	Average age of diagnosis for people with mutation	Average age of diagnosis for people in the general population
Colorectal	46 - 61%	4.2%	44 years	68 - 72 years
Endometrial	34 - 54%	3.1%	49 years	60 years
Ovarian	4 - 20%	1.3%	46 years	63 years
Kidney/ureter	0.2 - 5%	1.2%	59 - 60 years	Not specified
	May be elevated	11.6	63 years	66 years
Bladder	2 - 7%	2.4%	59 years	73 years
Gastric	5 - 7%	0.9%	52 years	68 years
Small bowel	.4 - 11%	0.3%	47 years	60s - 70s
Brain	.7 - 1.7%	0.6%	No data	59 years
Biliary tract	1.9 - 3.7%	0.2%	50 years	70 - 72 years
Pancreatic	6.2%	1.6%	No data	71

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
cancer
breast cancer

Research on how inherited mutations in the gene affect cancer risk is ongoing.

Graph of lifetime risk for colorectal cancer in people with <button
x-data
class='glossary-tip tt-mlh1'
x-tooltip='<p>MLH1 is a gene found on chromosome 3. Mutations in MLH1 are associated with Lynch Syndrome. People with Lynch Syndrome have an increased the risk for colon, uterine, ovarian, pancreatic and other cancers. </p>

<p>Also see Lynch Syndrome. </p>
'
>MLH1</button> mutations Graph of lifetime risk for endometrial cancer in women with an <button
x-data
class='glossary-tip tt-mlh1'
x-tooltip='<p>MLH1 is a gene found on chromosome 3. Mutations in MLH1 are associated with Lynch Syndrome. People with Lynch Syndrome have an increased the risk for colon, uterine, ovarian, pancreatic and other cancers. </p>

<p>Also see Lynch Syndrome. </p>
'
>MLH1</button> mutation

Graph of lifetime risk for ovarian cancer in women with <button
x-data
class='glossary-tip tt-mlh1'
x-tooltip='<p>MLH1 is a gene found on chromosome 3. Mutations in MLH1 are associated with Lynch Syndrome. People with Lynch Syndrome have an increased the risk for colon, uterine, ovarian, pancreatic and other cancers. </p>

<p>Also see Lynch Syndrome. </p>
'
>MLH1</button> mutations Graph of lifetime risk for pancreatic cancer for person with an <button
x-data
class='glossary-tip tt-mlh1'
x-tooltip='<p>MLH1 is a gene found on chromosome 3. Mutations in MLH1 are associated with Lynch Syndrome. People with Lynch Syndrome have an increased the risk for colon, uterine, ovarian, pancreatic and other cancers. </p>

<p>Also see Lynch Syndrome. </p>
'
>MLH1</button> mutation

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:

current age
gender assigned at birth
specific mutation
personal and family health history
diet, exercise, lifestyle and other factors

Last updated July 02, 2022

Get Support

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.

updated: 08/06/2022

Open Clinical Trials

The following screening and prevention studies are open to people with .

Colorectal cancer

NCT03831698: Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With (COLYNE). This study is looking at the effects of omega-3-acid ethyl esters capsules (generic Lovaza) on molecular, and intestinal microbiota changes in participants at high risk for colorectal cancer.
NCT04379999: Atorvastatin ± Aspirin in Syndrome. This study will investigate whether a common cholesterol lowering agent (atorvastatin) alone or combining with a nonsteroidal anti-inflammatory drug (aspirin) reduces the risk of colorectal cancer (CRC) in high-risk individuals with .

Gynecologic cancers

NCT05257057: Frequency of Endometrial Cancer Precursors Associated With . The purpose of this study is to examine endometrial hyperplasia specimens and compare the frequency of gene mutations between people with endometrial hyperplasia and those with endometrial cancer.
NCT00508573: Registry for Women Who Are At Risk Or May Have . The goal of this study is to create a registry of information about women who have or are at risk for , in order to study gynecologic cancer risks.
Validating a Blood Test for Early Ovarian Cancer Detection in High-risk Women and Families: MicroRNA Detection Study (MiDE). The goal of MiDe is to develop a clinical diagnostic test to detect early onset ovarian cancer, as currently, there are no good screening or early detection tests available. Participants can be expected to provide up to 4 tubes of blood every 6 months for up to 5 years. We can collect these samples through mobile phlebotomy all around the US.

cancer

NCT03805919: Men at High Genetic Risk for Cancer. This is a cancer screening study using in high risk men. This study is open to men with and other mutations.
NCT05129605: Cancer Genetic Risk Evaluation and Screening Study (PROGRESS). This study will look at how well MRI works as a screening tool for men at high risk for cancer. This study is open to men with inherited mutations in , , , , , , HOXB13, , , , , , , , , and other genes.

Pancreatic cancer

NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal to screen for pancreatic cancer in high risk people. The study is open to people with a mutation or other mutation linked to increased cancer risk who also have a family history of pancreatic cancer.
NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples over time to look for biomarkers of pancreatic cancer in high risk people. The study is open to people with an mutation or other mutation linked to increased cancer risk.
NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals. The main goal of this study is to screen and detect pancreatic cancer and precursor lesions in individuals with a strong family history or genetic predisposition to pancreatic cancer. and Magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for early pancreatic lesions.

A number of other clinical trials for patients with endometrial cancer can be found here.

updated: 09/19/2022

Cancer risk associated with inherited MLH1 mutations

Get Support

Related Resources

Open Clinical Trials

Cancer risk associated with inherited mutations