Table 4 SAPCS patients presenting with DNA polymerase PPV/POVs (n = 20) ranked by patient-matched tumour mutational burden (TMB, highest to lowest) and including evidence for microsatellite instability (MSI)

From: Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry

POL Gene

AA Change

PPV/POV

Patient ID

TMB

MSS/MSI

POLE

P99L

POV

UP2113R1

59.61010363

MSI-H

POLQ

L232I

PSLF-POV

UP2113R2

59.61010363

MSI-H

POLE

R1297C

POV

KAL070

3.31444300

MSS

POLE

P99L

POV

UP2050R1

3.00356217

MSS

POLG

R562G

POV

UP2039

2.56088082

MSS

POLQ

L232I

PSLF-POV

UP2116R2

2.10200777

MSS

POLE

E1554K

POV

N0067

2.05246114

MSS

POLQ

R784C

POV

SMU030R3

1.87726683

MSS

POLQ

R784C

POV

N0053R3

1.84455958

MSS

POLE

S864C

POV

KAL0074

1.59844559

MSS

POLG

R993C

POV

KAL0074

1.59844559

MSS

POLQ

S1618X

POV

SMU050

1.53076424

MSS

POLE

P99L

POV

UP2197R1

1.14831606

MSS

POLQ

L232I

PSLF-POV

UP2004R2

1.02040155

MSS

POLQ

L388del

POV

UP2004

1.02040155

MSS

POLQ

K83fs

POV

KAL0106

1.00680051

MSS

POLQ

L232I

PSLF-POV

SMU097R2

0.76878238

MSS

POLG

F749S

PSLF-PPV

SMU177R4

0.46599741

MSS

POLG

G531S

POV

UP2317

0.37240932

MSS

POLG

F749S

PSLF-PPV

KAL0101R4

0.07059585

MSS

POLG

F749S

PSLF-PPV

SMU159R4

0.0625

MSS

POLE

R1355C

POV

SMU111

0.0625

MSS

POLQ

L232I

PSLF-POV

UP2092R2

0.03465025

MSS

  1. AA amino acid, PPV potentially pathogenic variant, POV potentially oncogenic variant, PSLF population specific low-frequency, TMB tumour mutational burden, MSS microsatellite stability, MSI-H microsatellite instability high.
  2. R1–R4Represent patients (by ID) presenting with the same POL gene pathogenic variant.
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