Table 1.
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.