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24 June 2020: Clinical Research

Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China

Zhong Liang 1ABCDEF** , Weidong Hu 2ABCD* , Shuping Li 3ABCDEF , Zhenhong Wei 4BCDEF , Zijiang Zhu 1CD

DOI: 10.12659/MSM.923926

Med Sci Monit 2020; 26:e923926

Table 4 Summary of mutations in the BRCA2 gene in patient #4 with familial esophageal cancer.

Exon numberNucleotide changesAmino acid changesMutation type
5c.426–2A>G* ** Splice-site
9c.793+53delTIVS, UV
c.1909+12delTIVS, UV
c.6841+80delTTAAIVS, UV
17c.7806–14T>CIVS, UV
22c.8755–66T>CIVS, UV
* Novel mutation;
** splice site mutation leads to downstream frameshift with a premature stop codon.
IVS – intervening sequence (intron); UV – unclassified variant.

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750