24 June 2020 : Clinical Research
Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China
Zhong Liang1ABCDEF*, Weidong Hu2ABCD, Shuping Li3ABCDEF, Zhenhong Wei4BCDEF, Zijiang Zhu1CDDOI: 10.12659/MSM.923926
Med Sci Monit 2020; 26:e923926
Table 1 Summary of mutations in the BRCA2 gene in patient #1 with familial esophageal cancer.
| Exon number | Nucleotide changes | Amino acid changes | Mutation type |
|---|---|---|---|
| 9 | c.793+53delT | – | IVS, UV |
| 10 | c.1114C>A | His372Asn | Missense |
| c.1796T>C | Phe599Ser | Missense | |
| c.1909+12delT | – | IVS, UV | |
| 11 | c.3396A>G | – | Synonymous |
| c.6841+80delTTAA | – | IVS, UV | |
| 14 | c.7242A>G | – | Synonymous |
| 17 | c.7806–14T>C | – | IVS, UV |
| 22 | c.8755–66T>C | – | IVS, UV |
| IVS – intervening sequence (intron); UV – unclassified variant. | |||