TABLE 2.
Five pathogenic variants identified in 40 young Rwandan patients.
| Patient ID | Patient age | Tumor stage | Tumor subtype | Family history | Gene | Nucleotide change | Protein effect | Coding impact | rsID |
|---|---|---|---|---|---|---|---|---|---|
| BC01 | 27 | II | ER+PR+Her2‐ | Two Aunts, 38 and 46 years, BC | BRCA2 a | c.1300_1303del | p.(Lys434Glufs*25) | Frameshift | rs397507577 |
| BC05 | 34 | III | ER+Her2‐ | Sister, 42 years, BC | BRCA2 | c.3720_3723del | p.(Phe1241Valfs*17) | Frameshift | rs886038093 |
| BC40 | 34 | III | ER‐PR‐Her2+ | Unknown | BRCA2 | C.9097dupA | p.(Thr3033Asnfs*11) | Frameshift | rs397507419 |
| BC22 | 33 | II | ER‐PR‐Her2‐ | Unknown | BRCA1 b | C.4065_4068del | p.(Asn1355Lysfs*10) | Frameshift | rs80357508 |
| BC23 | 31 | III | ER+Her2+ | unknown | TP53 c | c.726C>G | p.Cys242Trp | Missense | rs375874539 |
a
Reference sequence BRCA2 (NM_000059.4).
b
Reference sequence: BRCA1 (NM_007294.4).
c
Reference sequence: TP53 (NM_000546.6).