Additional Table 5. In silico analysis of the alterations in exons 9 and 20 of PIK3CAin young patients with breast cancer.
| Sample ID | Age at diagnosis | Molecular Subtype | Exon | cDNA | Protein | p.Asn1044Asp | Mutation Type | ID COSMIC | Polyphen | SIFT | Provean | Align-GVGD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 452 | 34 | Luminal B | 20 | c.3130A>G | p.Asn1044Asp | N1044D | M | COSM27134 | Probably Damaging | Tolerated | Neutral | Class C15 |
| 454 | 34 | Luminal | 20 | c.3146G>A | p.Gly1049Asp | G1049D | M | COSM308548 | Probably Damaging | Tolerated | Neutral | Class C65 |
| 455 | 28 | Luminal B | 9 | c.1558G>A | p.Asp520Asn | D520N | M | COSM29096 | Benign | Tolerated | Neutral | Class C15 |
| 457 | 33 | Luminal B | 9 | c.1615C>T | p.Pro539Ser | P539S | M | COSM249880 | Probably Damaging | Tolerated | Deleterious | Class C65 |
| c.1664G>A | p.Arg555Lys | R555K | M | COSM1716158 | Probably Damaging | Damaging | Deleterious | Class C25 | ||||
| 468 | 33 | Luminal A | 9 | c.1656G>A | p.Trp552* | W552X | N | COSM37025 | - | - | - | - |
| 477 | 27 | TN | 9 | c.1634A>C | p.Glu545Ala | E545A | M | COSM12458 | Probably Damaging | Damaging | Deleterious | Class C65 |
| 478 | 29 | HER2 | 20 | c.3165G>A | p.Met1055Ile | M1055I | M | COSM9146166 | Benign | Tolerated | Neutral | Class C0 |
| c.3201G>A | p. Leu1067= | L1067L | Syn | - | - | Tolerated | Neutral | - | ||||
| 480 | 31 | TN | 9 | c.1634A>C | p.Glu545Ala | E545A | M | COSM12458 | Probably Damaging | Damaging | Deleterious | Class C65 |
| 20 | c.3203A>C | p.Asn1068Thr | N1068T | M | - | Probably Damaging | Damaging | Neutral | Class C55 | |||
| 483 | 35 | Luminal B | 9 | c.1634A>C | p.Glu545Ala | E545A | M | COSM12458 | Probably Damaging | Damaging | Deleterious | Class C65 |
| 484 | 35 | Luminal B | 9 | c.1593C>A | p.Leu531= | L531L | Syn | - | - | Tolerated | Neutral | - |
| 503 | 35 | HER2 | 20 | c.3150C>T | p.Gly1050= | G1050G | Syn | - | - | Tolerated | Neutral | - |
| 518 | 31 | Luminal B | 9 | c.1615C>T | p.Pro539Ser | P539S | M | COSM249880 | Probably Damaging | Tolerated | 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; M: Missense; N: Nonsense.