Additional Table 4. In silico analysis of the alterations in exons 9 and 20 of PIK3CA in postmenopausal patients with breast cancer.
| Sample ID | Age at diagnosis | Molecular Subtype | Exon | Cdna | Protein | Protein | Mutation Type | ID COSMIC | Polyphen | SIFT | Provean | Align-GVGD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 71 | Luminal B | 9 | c.1634A>C | p.Glu545Ala | E545A | M | COSM12458 | Probably Damaging | Damaging | Deleterious | Class C65 |
| 3 | 66 | Luminal B | 9 | c.1639G>C | p.Glu547Gln | E547Q | M | - | Probably Damaging | Damaging | Neutral | Class C25 |
| 8 | 61 | Luminal B | 20 | c.3075C>T | p.Thr1025= | T1025T | Syn | COSM21451 | - | Tolerated | Neutral | - |
| c.3140A>T | p.His1047Leu | H1047L | M | COSM776 | Benign | Damaging | Neutral | Class C65 | ||||
| 9 | 73 | Luminal A | 9 | c.1629C>T | p.Ile543= | I543I | Syn | COSM5020257 | - | Tolerated | Neutral | - |
| 10 | 57 | Luminal A | 9 | c.1549C>T | p.Leu517= | L517L | Syn | - | - | Tolerated | Neutral | - |
| 17* | 56 | Luminal B | 9 | c.1634A>C | p.Glu545Ala | E545A | M | COSM12458 | Probably Damaging | Damaging | Deleterious | Class C65 |
| 21 | 67 | Luminal B | 9 | c.1550T>C | p.Leu517Pro | L517P | M | - | Benign | Damaging | Neutral | Class C65 |
| 23 | 62 | Luminal B | 20 | c.3140A>T | p.His1047Leu | H1047L | M | COSM776 | Benign | Damaging | Neutral | Class C65 |
| 26 | 60 | Luminal B | 9 | c.1547G>A | p.Arg516Lys | R516K | M | COSM3724545 | Benign | Tolerated | Neutral | Class C25 |
| 20 | c.3170G>A | p.Trp1057* | W1057X | N | COSM6475611 | - | - | - | - | |||
| 32 | 56 | Luminal A | 20 | c.3098A>G | Gln1033Arg | Q1033R | M | COSM303947 | Possible Damaging | Damaging | Neutral | Class C35 |
| 36 | 63 | Luminal A | 9 | c.1634A>C | p.Glu545Ala | E545A | M | COSM12458 | Probably Damaging | Damaging | Deleterious | Class C65 |
| c.1658_1659delGTinsC | p.Ser553Thrfs*7 | S553fs | F | - | - | - | - | - | ||||
| 39 | 63 | Luminal A | 9 | c.1638G>A | p.Gln546= | Q546Q | Syn | COSM5622324 | - | Toleratd | Neutral | - |
| c.1664+46G>A | - | - | IVS | - | - | - | - | - | ||||
| 20 | c.3102G>A | p.Glu1034= | E1034E | Syn | - | - | Tolerated | Neutral | - | |||
| 46 | 55 | HER2 | 9 | c.1634A>C | p.Glu545Ala | E545A | M | COSM12458 | Probably Damaging | Damaging | Deleterious | Class C65 |
| c.1651C>T | p.Leu551= | L551L | Syn | COSM308546 | - | Tolerated | Neutral | - | ||||
| c.1658_1659delGTinsC | p.Ser553Thrfs*7 | S553fs | F | - | - | - | - | - | ||||
| 47* | 58 | TN | 9 | c.1622C>T | p.Ser541Phe | S541F | M | COSM6438100 | Possible Damaging | Damaging | Deleterious | Class C65 |
| 20 | c.3110A>T | p.Glu1037Val | E1037V | M | - | Benign | Damaging | Deleterious | Class C65 |
HGVS: Human Genome Variation Society; SIFT: Sorting Intolerant From Tolerant; PolyPhen: Polymorphism Phenotyping; Provean: Protein Variation Effect Analyzer; Align-GVGD: Class C0 (less probable to interfere with protein function), C15, C25, C35, C45, C55, C65 (more probable to interfere with protein function); Syn: Synonymous; IVS: Intervening Sequence; M: Missense; N: Nonsense. *Patients also harboring pathogenic germline mutations in BRCA1.