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Study: Hereditary pancreatic cancer among people of Hispanic ancestry in Mexico

This study looks at people of Mexican ancestry who have pancreatic cancer to identify mutations linked to hereditary cancer. Knowledge of a hereditary cancer mutation can inform patients and their family members about the need for additional surveillance or different treatment options. Access to genetic testing in Mexico is more limited than in the United States. This study emphasizes the importance of genetic testing for inherited cancer risk in pancreatic cancer patients in Mexico. (posted 6/25/25)

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RELEVANCE

Most relevant for: People of Hispanic ancestry who have pancreatic cancer or have a family history of cancer.

It may also be relevant for:

people with pancreatic cancer
people with a family history of cancer
people newly diagnosed with cancer
previvors

Relevance: Medium-High

Strength of Science: High

Research Timeline: Post Approval

Relevance rating details

What is this study about?

This study looked for inherited mutations that increase cancer risk among 137 patients enrolled in a cancer registry in Mexico. All participants were diagnosed with pancreatic cancer.

Researchers used multigene panel testing to determine how many patients had inherited mutations associated with pancreatic cancer. Multigene panel testing screens for changes across many cancer-related genes.

Why is this study important?

The National Comprehensive Cancer Network (NCCN) recommends genetic testing for all people with pancreatic cancer. Genetic testing results can be helpful for treatment planning and understanding family risk. Identifying inherited mutations may guide treatment and inform family members about their need for genetic testing. Access to genetic testing is limited in some countries, including Mexico. This study helps to address how often mutations occur in people diagnosed with pancreatic cancer in the Hispanic population.

In the United States, there are disparities in genetic testing for risk among people of Hispanic ethnicity. Because all of the study participants from Mexico reported Hispanic ancestry, the study may provide information about the frequency of inherited mutations in Hispanic people living in the United States and other countries.

Study findings

The study looked at 137 people who were diagnosed with pancreatic cancer and enrolled in the Clinical Cancer Genomics Community Research Network from Mexico. People across a range of ages and clinical stages of cancer were included. All participants were Mexican patients who self-identified as having Hispanic ancestry.

Participants were tested for mutations in 22 known genes. Some participants chose to have additional commercial genetic testing done with a 70-gene panel. Only potentially harmful mutations linked to risk were reported.

16% (22 of 137) had an linked to . The most common mutations were in the genes and CDKN2A:

Gene mutated	Number of participants	Percentage of participants
	8	5.8%
	2	1.5%
	6	4.3%
CHEK2*	2	1.5%
MUTYH**	2	1.5%
NF1***	1	0.7%
	2	1.5%
	1	0.7%
Total	22	16%

Note: Mutations in , MUTHY and are not known to increase pancreatic cancer risk.
*CHEK2 mutations are linked to increased breast cancer risk. The association of mutations to pancreatic cancer risk is unclear, and is not generally considered a pancreatic cancer risk gene.
**Mutations in both copies of the MUTYH gene are linked to increased colorectal cancer risk, however, mutations of one copy of the MUTYH gene (as with the patients here) have not been linked to increased cancer risk.
***NF1 mutations most commonly cause non-cancerous growths but are associated with breast cancer and some rare cancers. mutations are not associated with pancreatic cancer.

Among participants with an inherited mutation:
- Most (77%) had at least one family member with breast, colorectal, endometrial, ovarian, or pancreatic cancer compared to 48% of participants without a mutation.
- Few (27%) participants had a family history of pancreatic cancer.
This study did not review the frequency of inherited mutations among healthy people from this population, which limits its conclusions.
Smoking, alcohol use, and type 2 diabetes were common in the population tested here but were not associated with having a cancer risk mutation in this study.

What does this mean for me?

In the United States, the National Comprehensive Cancer Network (NCCN) recommends genetic testing for all people diagnosed with pancreatic cancer. Despite these guidelines, disparities in genetic testing for risk exist in the United States, including among people of Hispanic ethnicity. For people in other countries, including Mexico, barriers to guideline-recommended genetic testing exist.

In this study, nearly one-fifth of Mexican people with Hispanic ancestry diagnosed with pancreatic cancer had a mutation, most frequently in the or genes.

If you or a relative has been diagnosed with pancreatic cancer, it is important to speak with your doctor about genetic counseling and testing for risk. Knowledge of a mutation may change treatment options and help inform family members about their risk. If you have a mutation, you may be advised to have additional cancer surveillance, depending on your mutation.

Reference

Rodríguez-Olivares JL, Kimball TN, Jeter JM, et al. Prevalence and spectrum of pathogenic variants in cancer susceptibility genes among Mexican patients with exocrine pancreatic cancer. Pancreatology. 2024 Nov;24(7):1049-1056.

National Comprehensive Cancer Network. NCCN guidelines for patients: pancreatic cancer. 2023.

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.

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posted 6/25/25

Guidelines

National Comprehensive Cancer Network (NCCN) guidelines recommend the following for people diagnosed with pancreatic cancer:

Receive treatment from a team of healthcare professionals that includes a variety of experts in cancer care, genetics, mental health, nutrition and management of side effects. These experts are more likely to be found at large cancer centers that have extensive experience treating pancreatic cancer.
Make sure you have had the following tests:
- Genetic testing for an . Genetic test results may help you and your doctor decide on the best treatment. Genetic test results may also help your relatives understand their risk for cancer.
- Imaging tests to learn the of your cancer. is needed to plan and monitor your treatment. These tests determine whether the tumor can be removed with surgery (it is resectable), if the cancer has spread to nearby organs or (it is locally advanced) or has spread to other parts of the body (it has metastasized).
- Tumor testing for people with locally advanced or pancreatic cancer can also be used to make treatment decisions and/or determine if you are eligible for clinical trials.
Keep a copy of all test results (online patient portals are a great way to access test results). This will come in handy during a second opinion, if necessary.
Discuss with your healthcare team whether chemotherapy is recommended before and/or after your surgery.

Updated: 05/24/2025

Open Clinical Trials

The following treatment studies are enrolling people diagnosed with pancreatic cancer.

NCT06545942: Treating Advanced Cancers with DNA-Repair Mutations Using MOMA-313 Alone or In Combination with the Olaparib. This trial studies an investigational drug called MOMA-313 given alone or together with the olaparib for people with advanced cancers, including pancreatic cancer with certain mutations.
NCT04548752: Adding Pembrolizumab to to Treat Pancreatic Cancer in People with an Inherited Mutation. This study researches whether adding the drug pembrolizumab to the olaparib works better than alone for treating pancreatic cancer in people with an inherited or mutation.
NCT06115499: Treating BRCA1, or Pancreatic Cancer Using a New Combination of Chemotherapy Drugs. This study will compare a 3-drug chemotherapy combination (NABPLAGEM; gemcitabine, cisplatin, nab-paclitaxel) to a 2-drug chemotherapy combination (gemcitabine/nab-paclitaxel) to treat people with pancreatic cancer with a , or mutation who have pancreatic cancer that has progressed after chemotherapy.
NCT04858334: or in Patients with Surgically Removed Pancreatic Cancer who have a , or Mutation (APOLLO). This study compares the usual approach (observation) to treatment for one year with in patients with a , or mutation.
NCT04550494: Treating Solid Tumors with an Inherited or Acquired Gene Mutation Using the Talazoparib. This study looks at the safety and effectivenss of the drug for treating people with advanced breast, gastric, ovarian, pancreatic or other cancers with an or an acquired mutation in certain repair genes, such as , , , , and others.
NCT05932862: Study of a New InvestigationaI Inhibitor to Treat People with Advanced . The study will test if an investigational treatment, XL309, is safe and works when used alone or in combination with a to treat people with advanced cancers, including pancreatic cancer.
NCT04150042: SHARON: A Clinical Trial for Cancer With an Inherited or Mutation Using Chemotherapy and Patients’ Own Stem Cells. This study looks at whether melphalan, BCNU, vitamin B12b and vitamin C followed by autologous (self) bone marrow stem cell infusion is safe and effective for treating patients with advanced pancreatic cancer or 4, breast cancer for people with a , or .

Other clinical trials for people with pancreatic cancer can be found here.