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Key PointsQuestionIs mutation type associated with the age at onset of Lynch syndrome–associated cancers?
FindingsIn this retrospective cohort study of 1063 individuals with proven Lynch syndrome, men and women with MSH6 mutations were diagnosed with colorectal and endometrial cancer at later...
Key PointsQuestionWhat are the cancer risks in members of families meeting the Amsterdam criteria for Lynch syndrome?
FindingsIn a population-based study, all Amsterdam criteria–positive pedigrees in Utah were ascertained and 202 families with 443 colorectal cancers that accounted for 2.6% of...
ImportanceThe National Cancer Database (NCDB), a joint quality improvement initiative of the American College of Surgeons Commission on Cancer and the American Cancer Society, has created a shared research file that has changed the study of cancer care in the United States. A thorough...
Key PointsQuestionWhat is the prevalence of cancer at baseline examination in a cancer surveillance program for individuals with Li-Fraumeni syndrome, a rare, highly penetrant cancer predisposition syndrome?
FindingsIn this cohort study of 116 individuals with Li-Fraumeni syndrome caused by...
This meta-analysis assesses the clinical utility of whole-body magnetic resonance imaging in 13 cohorts of germline TP53 mutation carriers.
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