Table 5.
All in silico pathogenic CDK12 nucleotide variants in HBOCS patients from Volga District, Tatarstan Republic.
| Patient | Hg19 coordinate transcript:cDNA protein | Frequency in gnomAD NFE(%) | Number in our study | Frequency in our study(%) | Other mutations | Immunohistochemistry(%) | |||
|---|---|---|---|---|---|---|---|---|---|
| ER | PR | HER2 | KI-67 | ||||||
| Pat.1 | 0.052 | 9 | 4.5 | BRCA2:NM_000059.3:c.3689C>T:p.Ser1230Phe RAD54L:NM_001142548.1:c.2213G>A:p.Arg738His |
8 | 6 | 0 | 20 | |
| Pat.2 | BRCA1:NM_007300.3:c.181T>G:p.Cys61Gly* | 0 | 0 | 0 | 0 | ||||
| Pat.3 | FANCI:NM_001113378.1:c.286G>A:p.Glu96Lys ATM:NM_000051.3:c.5975A>C:p.Lys1992Thr |
7 | 7 | 0 | 60 | ||||
| Pat.4 | chr17:37627130 NM_016507.3: |
BRCA2:NM_000059.3:c.9976A>T:p.Lys3326* | - | - | - | - | |||
| Pat.5 | c.1047-2A>G p.? | Absent | - | - | - | - | |||
| Pat.6 | Absent | 3 | 4 | 0 | 10 | ||||
| Pat.7 | BRCA1:NM_007300.3:c.5224C>T:p.Gln1742* | 5 | 5 | 0 | 10 | ||||
| Pat.8 | Absent | - | - | - | - | ||||
| Pat.9 | CDKN2A:NM_001195132:c.C496T:p.H166Y MSH6:NM_000179.2:c.2633T>C:p.Val878Ala |
? | ? | ? | ? | ||||
| Pat.10 | chr17:37687333 NM_016507.3:c.4237C>T p.His1413Tyr |
0.0019 | 1 | 0.5 | BRCA1:NM_007300.3:c.4946T>C:p.Met1649Thr | 8 | 8 | 0 | 0 |
| Pat.11 | chr17:37627556 NM_016507.3:c.1471C>T p.Leu491Phe |
0.0045 | 1 | 0.5 | BARD1:NM_000465.3:c.104C>G:p.Ala35Gly | 0 | 0 | 0 | 97 |
| Pat.12 | chr17:37627187 NM_016507.3:c.1102T>A p.Ser368Thr |
0.02 | 1 | 0.5 | MLH3:NM_001040108.1:c.1870G>C:p.Glu624Gln | 7 | 8 | 0 | 30 |
| Pat.13 | chr17:37673748 NM_016507.3:c.2902T>C p.Tyr968His |
0.0045 | 1 | 0.5 | BRIP1:NM_032043.2:c.728T>C:p.Ile243Thr | 0 | 0 | 0 | 0 |
| Pat.14 | chr17:37676286 NM_016507.3:c.3041C>T p.Thr1014Ile |
0.0012 | 1 | 0.5 |
BRCA1:NM_007300.3:c.4327C>T:p.Arg1443* RAD54L:NM_001142548.1:c.1317G>C:p.Glu439Asp |
0 | 0 | 0 | 0 |
*
“-”- patients with ovarian cancer, receptor status is usually not determined in clinical practice; “?” – patients with breast cancer with unknown receptor status.