Table 4.
PMS2 probands, type of cancer in proband and mutation information including; exon, nucleotide change, consequence of mutation and references.
| Family ID | Cancer | Exon | Nucleotide Change | Consequence of Mutation | Reference LOVD database ID |
|---|---|---|---|---|---|
| PMS2_3 | CRC (55), Renal (50) |
1 8 | c.1A>G +c.834_842del |
Alternative DNA transcript Deletion | DB-ID: PMS2_00130 |
| PMS2_1 PMS2_2 PMS2_5 |
CRC (41) No cancer (67) CRC (47) |
7 | c.736_741del6ins11 | Truncating | DB-ID: PMS2_00187 |
| PMS2_4 | CRC (38) | 7 | c.746_753del | Truncating | Not previously reported |
| PMS2_6 | CRC (60) | 9 | c.904_1144del | Exon deletion | DB-ID: PMS2_00195 |
4 different PMS2 mutations have been detected in our patient Cohort. Not previously reported = not reported in the Leiden Open Variation Database (LOVD), the Mismatch Repair Genes Variant Database (Memorial University of Newfoundland) or the InSIGHT database as a HNPCC/Lynch syndrome mutation. DB-ID = Database identification number from LOVD.