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Table 4 PMS2 probands, type of cancer in proband and mutation information including; exon, nucleotide change, consequence of mutation and references.

From: MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

Family ID Cancer Exon Nucleotide Change Consequence of Mutation Reference
LOVD database ID
PMS2_3 CRC (55),
Renal (50)
1 8 c.1A>G
Alternative DNA transcript Deletion DB-ID: PMS2_00130
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
  1. 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.