Ji Min, Wang Lin, Shao Yuguo, Cao Wei, Xu Ting, Chen Shujie, Wang Zhiwei, He Qi, Yang Kuo
Department of Breast, International Peace Maternity and Child Health Hospital, Shanghai Jiaotong UniversityShanghai 200030, People's Republic of China.
Tianjin Institute of Urology, The 2nd Hospital of Tianjin Medical UniversityTianjin 300211, People's Republic of China.
Am J Cancer Res. 2018 Jan 1;8(1):165-169. eCollection 2018.
Li-Fraumeni Syndrome (LFS), which is a rare dominantly inherited cancer predisposition syndrome, is associated with germline P53 mutations. Mutations of the tumor suppressor protein P53 are associated with more than 50% of human cancers; however, almost 30% of P53 mutations occur rarely and this has raised questions about their significance. It therefore appeared of particular interest that we identified a novel mutation in a patient suffering from breast cancer and fulfilling the diagnostic criteria of LFS. In this study, a patient with remarkable family history developed breast cancer and was diagnosed with LFS. By performing next-generation sequencing on the patient and subsequent verification by Sanger sequencing among other family members, a new germ-line P53 replication error, a trinucleotide repeat mutation in the coding region, was identified in two generations of this Li-Fraumeni family.
李-佛美尼综合征（LFS）是一种罕见的常染色体显性遗传的癌症易感综合征，与种系P53突变相关。肿瘤抑制蛋白P53的突变与超过50%的人类癌症相关；然而，近30%的P53突变很少发生，这引发了对其意义的质疑。因此，我们在一名患有乳腺癌且符合LFS诊断标准的患者中发现了一种新的突变，这似乎特别令人感兴趣。在本研究中，一名有显著家族病史的患者患了乳腺癌并被诊断为LFS。通过对该患者进行二代测序，并在其他家庭成员中随后通过桑格测序进行验证，在这个李-佛美尼家族的两代人中发现了一种新的种系P53复制错误，即编码区的三核苷酸重复突变。
