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Table 1 List of the MSH6 probands, IHC/MSI results 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 IHC/MSI results Exon Nucleotide Change Consequence of Mutation LOVD database ID
MSH6_10 -veMSH2, +veMSH6 1 c.1_457del Deletion DB-ID: MSH6_00001
MSH6_8 Not available 2 c.458_627del Truncating DB-ID: MSH6_00336
MSH6_5 -ve MSH6 3 c.458_657del Exon deletion Not previously reported
MSH6_29 Not available 3 c.620del Frameshift Not previously reported
MSH6_7 +ve MLH1, MSH2, PMS2. MSH6; uninformative MSI-High 4 c.674insTG Frameshift/Stop Not previously reported
MSH6_19 -ve MSH6 4 c.710delG Frameshift/Stop DB-ID: MSH6_00702*
MSH6_17 Not available 4 c.723dupT Nonsense substitution/Stop Not previously reported
MSH6_23 -ve MSH6 4 c.1404_1405delTC Truncating Not previously reported
MSH6_4 -ve MSH6 MSI-High 4 c.2150_ 2153delTCAG Frameshift DB-ID: MSH6_00175
MSH6_27 MSH6; isolated loss 4 c.2348_2349del Truncating DB-ID: MSH6_00442
MSH6_6 Not available 4 c.2765delG Frameshift DB-ID:MSH6_00703*
MSH6_1 Not available 4 c.2535dupT Frameshift/Stop DB-ID: MSH6_00701*
MSH6_20 -ve MSH6 MSI-High 4 c.2731C>T Truncating DB-ID: MSH6_00071
MSH6_16 -ve MSH6 4 c.2976delA Truncating Not previously reported
MSH6_25 -ve MSH6 MSI-High 4 c.3142C>T Nonsense substitution Not previously reported
MSH6_3 -ve MSH6 4 c.3172+1G>T Splice site DB-ID: MSH6_00705*
MSH6_14 Not available 5 c.3173_3556del Deletion DB-ID: MSH6_00482
MSH6_13 MSH6_22 -ve MSH6 -ve MSH6 5 c.3202C>T Truncating DB-ID: MSH6_00487
MSH6_18 -ve MSH6 5 c.3261dupC Frameshift DB-ID: MSH6_00201
MSH6_12 Not available 5 c.3261delC Frameshift/Stop DB-ID: MSH6_00203
MSH6_9 -ve MSH6 MSI-High     
MSH6_11 -ve MSH2, +ve MSH6 5 c.3268_3274delGACCTTA Truncating DB-ID: MSH6_00706*
MSH6_21 MSH6_26 -ve MSH6 -ve MSH6 5 c.3312delT Truncating DB-ID: MSH6_00497
MSH6_15 -ve MSH6 6 c.3439-1G>T Splice site DB-ID: MSH6_00713*
MSH6_28 -ve MSH6 6 c.3556+3_3556+13delGAGTTTTTTGT Splice site DB-ID: MSH6_00661
MSH6_24 Not available 7 c.3646+2dupT Splice site Not previously reported
MSH6_2 MSI-High 8 c.3724del13 Frameshift/Stop Not previously reported
  1. 26 different MSH6 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.
  2. #-ve = loss of protein expression, +ve = protein expression present
  3. *Submitted to LOVD by our research group
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287