Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing

医学 基因检测 背景(考古学) 家族史 癌症 遗传咨询 乳腺癌 李-弗劳门尼综合征 医学遗传学 病史 家庭医学 内科学 肿瘤科 遗传学 基因 种系突变 突变 生物 古生物学
作者
Tuya Pal,Jennifer Brzosowicz,Ailyn Valladares,Georgia L. Wiesner,Christine Laronga
出处
期刊:Southern Medical Journal [Lippincott Williams & Wilkins]
卷期号:110 (10): 643-648 被引量:7
标识
DOI:10.14423/smj.0000000000000711
摘要

OBJECTIVES: , we sought to characterize the original clinical context in which genetic testing was performed, the personal and family history and whether they met clinical LFS criteria, and the follow-up care following diagnosis among those in whom this information was available. METHODS: . Subsequent cancer risk management options were documented through information collected in the study questionnaire and medical records. RESULTS: P/LP variant detected through a multigene panel test, the most frequent clinical contexts for testing were genetic risk recognized in the survivorship care setting (50%) and a newly diagnosed breast cancer (40%). No participants met classic LFS diagnostic criteria and 6 of 10 met Chompret criteria (60%) at the time of testing. Among the seven participants in whom results of total body magnetic resonance imaging were available, only three had completely negative findings. The remaining four had findings, three of which were likely benign/incidental requiring additional follow-up, and one was consistent with metastatic disease in the vertebrae. CONCLUSIONS: in the era of multigene testing should be considered when making cancer risk management recommendations, which were developed based on patients with classic LFS.

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