Skip to main content
. 2020 Jan 22;37(3):230–235. doi: 10.12701/yujm.2019.00423

Table 1.

Summary of BRCA mutation assay results (no pathogenic mutation was identified)

Germline (blood) Breast tumor at diagnosis Skin lesion prior to cisplatin monotherapy
Nucleotide Amino acid SNP no. Nucleotide Amino acid SNP no. Nucleotide Amino acid SNP no.
BRCA1 c.5383C>T p.Leu1795Phe rs878854958
c.4837A>G p.S1613G rs1799966 c.4837A>G p.Ser1613Gly rs1799966 c.4837A>G p.Ser1613Gly rs1799966
c.4308T>C p.S1436= rs1060915 c.4308T>C p.Ser1436= rs1060915 c.4308T>C p.Ser1436= rs1060915
c.3548A>G p.K1183R rs16942 c.3548A>G p.Lys1183Arg rs16942 c.3548A>G p.Lys1183Arg rs16942
c.3113A>G p.E1038G rs16941 c.3113A>G p.Glu1038Gly rs16941 c.3113A>G p.Glu1038Gly rs16941
c.2612C>T p.P871L rs799917 c.2612C>T p.Pro871Leu rs799917 c.2612C>T p.Pro871Leu rs799917
c.2311T>C p.L771 rs16940 c.2311T>C p.Leu771= rs16940 c.2311T>C p.Leu771= rs16940
c.2082C>T p.S694= rs1799949 c.2082C>T p.Ser694= rs1799949 c.2082C>T p.Ser694= rs1799949
c.441+36_441+38delCTT rs147856441 c.441+36_441+38delCTT rs147856441
c.-19-115T>C rs3765640 c.-19-115T>C rs3765640
BRCA2 c.1114A>C p.N372H rs144848 c.1114A>C p.Asn372His rs144848 c.1114A>C p.Asn372His rs144848
c.3807T>C p.V1269= rs543304 c.3807T>C p.Val1269= rs543304 c.3807T>C p.Val1269= rs543304
c.4563A>G p.Leu1521= rs206075 c.4563A>G p.Leu1521= rs206075
c.6513G>C p.Val2171= rs206076 c.6513G>C p.Val2171= rs206076
c.7393G>A p.Ala2465Thr
c.7397C>T p.Ala2466Val rs169547 c.7397C>T p.Ala2466Val rs169547

SNP, single-nucleotide polymorphism.