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

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.

ISSN: 1897-4287