The function of the ATM gene is to make sure cells grow and divide at a controlled rate. When the ATM gene is mutated and can’t work properly, this can cause cells to grow out of control and form a cancerous tumor. When individuals are born with a harmful mutation in a single copy of their ATM gene, they are at an increased risk of developing a few different types of cancers. The highest cancer risk associated with ATM mutations is female breast cancer. Females with ATM mutations have a 20-40% lifetime risk of developing breast cancer, and should consider having breast MRIs in addition to annual mammograms for closer breast cancer surveillance.
Mutations in ATM are also believed to increase the risk of pancreatic cancer. In the general population, the risk to develop pancreatic cancer is about 2%. For people with ATM mutations, that risk is estimated to be between 5 and 10%. Individuals who have ATM gene mutations should talk to their doctors about pancreatic cancer screening when they are close to age 50. This is especially important for people who have a family history of pancreatic cancer, as their screening may start even earlier. There is ongoing research as to whether ATM mutations are associated with increased risk for other cancer types, including ovarian, prostate, and colorectal.
Also important to know is that people who have two mutated copies of ATM will have a condition called ataxia-telangiectasia (AT). This is a childhood-onset condition, characterized by a lack of muscle coordination, dilated blood vessels (called telangiectases) in the eyes, and a predisposition to blood cancers. Individuals who have only one mutated copy of ATM will not have the features of AT, but will have a 50/50 chance of passing it on to a child. A child would have to inherit an ATM gene mutation from both parents to have ataxia-telangiectasia.
Browse the links below to learn more about the ATM gene:
FORCE (Facing Hereditary Cancer Empowered): https://www.facingourrisk.org/
Cancer.Net (managed by the American Society of Clinical Oncology):
Center for BRCA Research at UCSF: https://brca.ucsf.edu/atm-gene
To find an inherited GI Cancer Genetics Clinic near you, check out the “Find a Clinic” page on the CGA-IGC website: https://www.cgaigc.com/find-a-clinic
The American College of Gastroenterology (ACG), the National Comprehensive Cancer Network (NCCN), and the American Gastroenterology Association (AGA) suggest that patients be cared for at expert centers that provide a comprehensive, multidisciplinary pancreatic cancer surveillance program. Many of these centers participate in consortiums that encourage the collection of standardized surveillance data to support research efforts to improve pancreatic cancer surveillance. You can find comprehensive GLOBAL resources for Pancreatic Surveillance Programs - including CGA-IGC Centers, International Cancer of the Pancreas Screening (CAPS) Consortium, and Pancreatic Cancer Early Detection (PRECEDE) Consortium on the CGA-IGC website here
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If you enjoyed this blog post, you might be interested in the following resources
1. On-demand Webinars FREE for CGA-IGC members. Not a member? Sign up here!
From 2023 with Barry Tong, Niharika Dixit, and Evan Walker discussing Optimizing access to genetic testing for patients with pancreatic cancer. Webinar / Blog
2. Podcasts OPEN ACCESS
From 2022 with Michael G. Goggins, M.B.B.CH., M.D., and Beth Dudley Yurkovich, MS, MPH, CGC, speaking about The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival. Podcast
From 2022 with Thomas (T.J.) Slavin, M.D.,FACMGG, Ph.D. and Bryson Katona, M.D., PhD, speaking about EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer. Podcast