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ATM Mutation Increases Pancreatic Cancer Risk
Pancreatic cancer has a potential familial component in less than 10% of cases, usually suggested by a family history and subsequently confirmed by genetic testing. Given the increasing utilization of next-generation sequencing, data are emerging about the prevalence of heritable causes of pancreatic cancer. As heritable mutations are sometimes detected in the absence of a family history, genetic counseling and potential germline testing are recommended for all patients with newly diagnosed pancreatic cancer.
Investigators now report the results from a cohort study of pancreatic cancer registries in the U.S. and Canada. They evaluated 130 families and 2227 patients, with a focus on the prevalence and impact of pathogenic germline mutations in the ATM gene on pancreatic cancer development. A total of 155 patients tested positive for a pathogenic ATM variant (most patients were not tested), and a total of 217 cases of pancreatic cancer were diagnosed. The cumulative risk for developing pancreatic cancer in ATM variant carriers increased with age as follows:
- Age 30: 0.08%
- Age 40: 0.30%
- Age 50: 1.08%
- Age 60: 3.03%
- Age 70: 6.28%
- Age 80: 9.53%
Comment
This report indicates that pathogenic ATM mutations represent a risk factor for developing pancreatic cancer and that risk increases with age. The risk for developing pancreatic cancer in germline ATM mutation carriers is similar to the risk seen in better-characterized heritable genes such as BRCA2. Surveillance protocols for high-risk families are increasingly common, and ATM mutation carriers may be considered for such strategies.
Citation(s)
Author:
Hsu F-C et al.
Title:
Risk of pancreatic cancer among individuals with pathogenic variants in the ATM gene.
Source:
JAMA Oncol
2021
Sep
16; [e-pub].
(Abstract/FREE Full Text)
Empfohlen von
David H. Ilson, MD, PhD