Study: Cancer patients with certain inherited mutations have cancer outcomes similar to those without inherited mutations
People with an inherited mutation in certain genes, including ATM, CHEK2, PALB2, BRCA or Lynch syndrome genes, have an increased risk of cancer. In this study, researchers wanted to know whether cancer patients with inherited mutations had a different chance of survival than patients without an inherited mutation in these genes. These results showed that, although the risk of cancer is increased, there is no difference in survival after a diagnosis of breast, pancreatic or colorectal cancer with or without these genetic changes. (posted 11/20/25)
RELEVANCE
Most relevant for: People with an inherited mutation in ATM, BRCA1, BRCA2, CHEK2, PALB2 or a Lynch syndrome gene who have been diagnosed with breast, colorectal or pancreatic cancer.
It may also be relevant for:
- people with a genetic mutation linked to cancer risk
Relevance: High
Strength of Science: Medium-High
What is this study
Many people learn through genetic testing that they have an in a gene that increases their risk of cancer. Knowledge of an can guide prevention strategies, treatment decisions and follow-up care for patients and can indicate family members who may also be at increased risk of cancer. Well-known examples include , and genes (, , , and ). Other genes, like , and are also associated with higher cancer risk, but less is known about how they might influence survival after a cancer diagnosis, such as how aggressive the cancer is or how difficult it may be to treat.
To understand more about these outcomes, this study examined over 70,000 people who had genetic testing and were diagnosed with colorectal, pancreatic cancer or specific types of breast cancer (hormone-receptor-positive, or triple-negative breast cancers). The researchers compared survival between people with inherited mutations and those without them. In most cases, people with a hereditary mutation had similar chances of survival when compared to those who did not carry a mutation.
Why is this study
For many people, learning that they carry a hereditary mutation can be overwhelming. In addition to worrying about a cancer diagnosis, they may also wonder whether their cancer will be more aggressive or harder to treat. This study offers reassurance. It showed that for many patients with breast, colorectal or pancreatic cancer, having a mutation in , or did not affect their survival compared to patients without these mutations. This study also confirmed prior research about these cancers for those with mutations in , or a gene.
This insight helps cancer patients and their doctors better understand how their genetic test results may affect their health outcomes. It can also help reduce fear and worry for patients and their family members and empower informed decision-making.
Study
Researchers reviewed the medical and genetic testing information of 70,272 adults in California and Georgia who were diagnosed with any breast, colorectal or pancreatic cancer from January 2013 to December 2019. People were included if they had genetic testing within 6 months of their cancer diagnosis. People were excluded if they were under age 20 at the time of their cancer diagnosis, had more than one primary cancer or were diagnosed at their death.
Researchers compared how long people with an lived after their cancer diagnosis compared to those without an . Two types of analysis were used to evaluate survival information—most cases showed similar results. More detailed study findings about participants with different gene mutations are included below.
, ,
People with an in , or lived about as long as those without an , whether they were diagnosed with breast, colorectal or pancreatic cancer. When the three types of breast cancer were evaluated separately, those with mutations and had similar survival to those without a mutation when evaluated with one type of analysis. However, a different type of analysis showed worse survival in the same group. Researchers believe the second analysis may be less reliable due to the small number of participants.
or
People with a or mutation who had lived longer on average than those without these mutations, possibly because cancers with these mutations respond well to current treatments. Patients diagnosed with pancreatic or colorectal cancer who had a or mutation lived as long as people without an .
genes (, , , , )
People with a gene mutation who had colorectal cancer tended to survive longer than those without a mutation. People with a mutation who had pancreatic cancer or breast cancer lived as long as those without an . (Note: is not thought to increase the risk of breast cancer.)
| Survival of cancer patients with and without inherited mutations 5 years after diagnosis | |||||
| Cancer | Cancer subtype | Genetic status | |||
| No mutation | , or mutation | or mutation | mutation | ||
| Colorectal | any |
Early , 73-91% Metastatic, 14% |
Similar | Similar | Better survival |
| Pancreatic | any |
Early , 16-44% Metastatic, 3% |
Similar | Similar | Better survival |
| Breast | Triple-negative () |
Early , 86-99% Metastatic 31% |
Similar* | Similar | Similar |
| Breast | , | Similar | Better survival | Similar | |
| Breast | HR-negative, | Similar | Similar | Similar | |
*For people with an mutation who had , one analysis model showed survival that was similar to people with no mutation. The second analysis model showed that survival was worse than for people with no mutation. Researchers believe this difference is due to the small number of patients in this group.
What does this mean for me?
If you have been diagnosed with breast, colorectal or pancreatic cancer and you have an inherited gene mutation linked to cancer, this research suggests that your chance of survival is similar to someone without a mutation. In some cases, depending on your mutation, cancer type and treatment type, your chances of survival may be improved.
It is known that certain types of chemotherapies, targeted therapies and immunotherapies work better in people with certain inherited mutations. If you have an and you are diagnosed with cancer, ask your healthcare provider to explain your prognosis and treatment options that would be tailored to your situation, considering your specific type of cancer, and personal and family medical histories.
Veenstra DL, Johnson A, Naeim A, et al. Breast, colorectal, and pancreatic cancer mortality with pathogenic variants in , , or . Journal of Clinical Oncology. 2025;43(9):1054-1063.
Disclosure: FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.
Share your thoughts on this XRAY review by taking our brief survey.
posted 11/20/25
