李-佛美尼症候群与假性李-佛美尼症候群：疑似癌症易发性症候群患者之次世代定序报告解读的关键见解。
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes.
机构信息
Oncology Division, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
Oncology Division, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
出版信息
Oncologist. 2017 Sep;22(9):1084-1085. doi: 10.1634/theoncologist.2017-0016. Epub 2017 Jun 7.
Abstract
This brief communication describes the case of a patient with colorectal cancer with a TP53 germline mutation initially considered somatic because no TP53 germline mutation was noted in the liquid biopsy (cell‐free DNA) next‐generation sequencing assay.
摘要
本简要通讯描述了一例结直肠癌患者，其 TP53 种系突变最初被认为是体细胞突变，因为在液体活检（游离 DNA）下一代测序检测中未发现 TP53 种系突变。
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