JAMA oncology
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Case Reports Multicenter Study
Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.
Li-Fraumeni syndrome, usually characterized by germline TP53 mutations, is associated with markedly elevated lifetime risks of multiple cancers, and has been linked to an increased risk of early-onset colorectal cancer. ⋯ In a large cohort of patients with early-onset colorectal cancer, germline TP53 mutations were detected at a frequency comparable with the published prevalence of germline APC mutations in colorectal cancer. With the increasing use of multigene next-generation sequencing panels in hereditary cancer risk assessment, clinicians will be faced with the challenge of interpreting the biologic and clinical significance of germline TP53 mutations in families whose phenotypes are atypical for Li-Fraumeni syndrome.
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Multicenter Study Observational Study
Association of Actual and Preferred Decision Roles With Patient-Reported Quality of Care: Shared Decision Making in Cancer Care.
Shared decision making is associated with improved patient-reported outcomes of cancer treatment, but not all patients prefer to participate in medical decisions. Results from studies of the effect of matching between actual and preferred medical decision roles on patients' perceptions of care quality have been conflicting. ⋯ Physician-controlled decisions regarding lung or colorectal cancer treatment were associated with lower ratings of care quality and physician communication. These effects were independent of patients' preferred decision roles, underscoring the importance of seeking to involve all patients in decision making about their treatment.
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Multicenter Study
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
E-cadherin (CDH1) is a cancer predisposition gene mutated in families meeting clinically defined hereditary diffuse gastric cancer (HDGC). Reliable estimates of cancer risk and spectrum in germline mutation carriers are essential for management. For families without CDH1 mutations, genetic-based risk stratification has not been possible, resulting in limited clinical options. ⋯ This is the largest reported series of CDH1 mutation carriers, providing more precise estimates of age-associated risks of gastric and breast cancer that will improve counseling of unaffected carriers. In HDGC families lacking CDH1 mutations, testing of CTNNA1 and other tumor suppressor genes should be considered. Clinically defined HDGC families can harbor mutations in genes (ie, BRCA2) with different clinical ramifications from CDH1. Therefore, we propose that HDGC syndrome may be best defined by mutations in CDH1 and closely related genes, rather than through clinical criteria that capture families with heterogeneous susceptibility profiles.