Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome

被引：4

作者：

Paduano, Francesco ^{[1
,2
,3
,4
]}

Fabiani, Fernanda ^{[1
]}

Colao, Emma ^{[1
]}

Trapasso, Francesco ^{[1
,5
]}

Perrotti, Nicola ^{[1
,2
]}

Barbieri, Vito ^{[6
]}

Baudi, Francesco ^{[5
]}

Iuliano, Rodolfo ^{[1
,2
]}

机构：

[1] Magna Graecia Univ Catanzaro, Med Genet Unit, Catanzaro, Italy

[2] Magna Graecia Univ Catanzaro, Dept Hlth Sci, Catanzaro, Italy

[3] Tecnol Res Inst & Marrelli Hlth, Biomed Sect, Stem Cells Unit, Crotone, Italy

[4] Tecnol Res Inst & Marrelli Hlth, Biomed Sect, Med Genet Unit, Crotone, Italy

[5] Magna Graecia Univ Catanzaro, Dept Expt & Clin Med, Catanzaro, Italy

[6] Mater Domini Hosp, Med Oncol Unit, Catanzaro, Italy

来源：

FRONTIERS IN GENETICS | 2021年 / 12卷

关键词：

Li-Fraumeni; TP53; targeted sequencing; LFS cancers; germline TP53 variant; GENOMICS; RISK;

D O I：

10.3389/fgene.2021.734809

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Li-Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected by osteosarcoma, we found the novel heterozygous frameshift variant c.645del (p.Ser215Argfs*32) in the TP53 gene. This variant co-segregated with typical LFS cancers in the family pedigree, consistent with the pathogenicity of this novel and previously undescribed TP53 variant.

引用

页数：5

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