Supplementary Table S3c. P/LP variations in other genes.
| S. no. | Gene | Variant description (HGVS) |
Protein change | ClinVar status |
Age (years) |
Sub-type | FH |
|---|---|---|---|---|---|---|---|
| 1 | ATM | NM_000051.4: c.5631_5635delinsA |
NP_000042.3: p. (Phe1877fs) |
P/LP | 29 | HR | + |
| 2. | TP53 | NM_000546.6: c.489C>G |
NP_000537.3: p.(Tyr163*) |
P | 43 | TNBC | +B |
| 3. | RAD51D | NM_001142571.2: c.423del |
NP_001136043.1): p. (Ala142Glnfs*14) |
P | 45 | TNBC | NA |
| 4. | CHEK2 | NM_007194.4: c.409C>T |
NP_009125.1: p.(Arg137Ter) |
P | 45 | HR | +B |
| 5. | ATM | NM_000051.4: c.5631_5635delinsA |
NP_000042.3: p.(Phe1877fs) |
P/LP | 40 | NA | NA |
| 6. | ATM | NM_000051.4: c.8480T>G |
NP_000042.3: p.(Phe2827Cys) |
P/LP | 65 | NA | NA |
| 7. | HMMR | NM_001142556.2: c.1327C>T |
NP_001136028.1: p.(Gln443*) |
P | 34 | TNBC | − |
+, family history present; −, family history negative; NA, information not available; B, breast cancer in FDR; O, ovarian cancer in FDR; FDR, first degree relative; TNBC, triple negative breast cancer; TP, triple positive; HR, hormone receptor positive