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.

Talseth-Palmer et al. Hereditary Cancer in Clinical Practice 2010 8:5   doi:10.1186/1897-4287-8-5