Table 5 SAPCS patients (n = 22) presenting with potentially pathogenic germline variants (PPV/POVs) and showing tumour-matched enrichment for DNA damage repair (DDR)-like mutational signatures
Gene | AA change | PPV/POV | Ranking | Patient Tumour ID | Mutational Signature |
|---|---|---|---|---|---|
BRCA2 | W31R | PPV | 4 | UP2103 | ID6 |
PREX2 | R1230W | PSLF-POV | 8 | ||
FANCA | R504G | POV | 4.5 | N0084 | ID1 |
FANCG | YRQ213-215X | PPV | 5.5 | UP2093 | DSB7 |
PREX2 | R1230W | PSLF-POV | 8 | ||
RECQL4 | AGR805-807del | PPV | 4 | UP2187 | DSB7 |
CLSPN | Splice donor | POV | 3.5 | ||
ERCC4 | I706T | POV | 2.5 | N0078 | ID1 |
RAD23B | QG338-339R | POV | 2.5 | ||
POLE | P99L | POV | 7.5 | UP2113 | ID2 |
POLQ | L232I | LF-POV | 19 | ||
FAT1 | A1865V | POV | 0.5 | SMU030 | ID1 & SV3 |
POLQ | R784C | POV | 2.5 | ||
HERC2 | A332S | POV | 1.5 | KAL0091 | SV3 |
LEF1 | R89W | POV | 1.5 | ||
PREX2 | R1230W | PSLF-POV | 8 | ||
RET | V871I | POV | 2.5 | SMU041 | SV3 |
KMT2A | R3242Q | POV | 3.5 | ||
MUTYH | splice donor | POV | 3 | SMU097 | SV3 |
POLQ | L232I | PSLF-POV | 19 | ||
FANCI | splice donor | POV | 4 | UP2330 | ID2 |
TRRAP | A2335G | POV | 8 | UP2133 | ID1 |
RTEL1 | R898C | POV | 7 | UP2258 | ID1 |
LRP1B | Y3183C | POV | 2 | UP2396 | ID6 |
ERBB3 | R838Q | PPV | 3 | N0007 | ID8 |
POLQ | S1618X | POV | 5.5 | SMU050 | ID1 & SV3 |
FAT1 | G331D | POV | 2 | UP2372 | SV3 |
ERCC4 | A860D | POV | MAF excluded | SMU167 | SV3 |
KMT2A | K3181R | POV | 2 | KAL0078 | SV3 |
PREX2 | K787E | PSLF-POV | 9 | N0001 | SV3 |
ERCC2 | R608C | POV | 2.5 | N0088 | SV3 |
DNMT3A | R326P | POV | VAF excluded | SMU083 | SV3 |
