News Release

Hereditary cancer syndromes focus of JAMA Oncology collection

Peer-Reviewed Publication

JAMA Network

JAMA Oncology published a collection of articles on hereditary cancer syndromes, including Li-Fraumeni and Lynch syndromes.

The online publication includes two original investigations, two brief reports, three research letters, an invited commentary and an author podcast.

In the podcast, Sharon A. Savage, M.D., of the National Cancer Institute, discusses one of the studies in which she and her coauthors describe the establishment and feasibility of an intensive cancer surveillance program for individuals with Li-Fraumeni syndrome, a rare syndrome marked by early-onset cancers and a high lifetime risk of cancer.

Baseline cancer screening in the study, which included 116 adults and children with Li-Fraumeni with a TP53 gene mutation, led to a diagnosis of cancer in eight individuals, for a cancer detection rate of 6.9 percent. The cancers were detected by whole body, brain and breast magnetic resonance imaging (MRIs). All but one cancer required only surgery (resection) for definitive treatment.

"Prevalent cancers were common among this cohort and institution of cancer screening for individuals with pathogenic germline TP53 variants is warranted," the article concludes.

Other articles published by JAMA Oncology on the hereditary cancer syndromes include:

  • "Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis"

  • "Cancer Screening in Li-Fraumeni Syndrome"

  • "Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies"

  • "Cancer Risk in Families Fulfilling the Amsterdam Criteria for Lynch Syndrome"

  • "Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study"

  • "Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging"

  • "Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial"


For more details and to read the full studies and preview the author podcast, please visit the For The Media website.

Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.

Related audio material: An author audio interview is available for preview on the For The Media website.

To place an electronic embedded link in your story: Links will be live at the embargo time:

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.