Article
Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome.
Oncology reports - 1 Mar 2016
Li Xiaoyuan, Kang Juan, Pan Qi, Sikora-Wohlfeld Weronika, Zhao Dachun, Meng Changting, Bai Chunmei, Patwardhan Anil, Chen Richard, Ren Hong, Butte Atul J, Ding Keyue
Abstract excerpt
To identify rare mutations and retrospectively estimate the cancer risk of a 45-year old female patient diagnosed with Li-Fraumeni syndrome (LFS), who developed nine primary malignant neoplasms in a period of 38 years, we conducted next-generation sequencing in this patient. Whole-genome and whole-exome sequencing were performed in DNA of whole blood obtained a year prior to the diagnosis of acute myeloid...
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