Table 1.
Monoallelic PMS2 mutation carriers
| Patient | Mutation | Tumor Type | Age of Dx | 2nd Primary (Age) | Affected parent (Y/N)* | # Affected sibs (total sibs) | # Affected 2DRs (total 2DRs) |
|---|---|---|---|---|---|---|---|
| 1 | c.736_741del6ins11 (P246CfsX3) | TCC | 45 | Rectum (50) | N | 0(1) | 0(6) |
| 2 | c.736_741del6ins11 (P246CfsX3) | Ascending | 54 | Y^ | 0(1) | U | |
| 3 | c.736_741del6ins11 (P246CfsX3) | Descending | 51 | N^ | 0(2) | 0(3) | |
| 4 | c.736_741del6ins11 (P246CfsX3) | Ascending | 74 | Y^ | 1(2) | U | |
| 5 | c.736_741del6ins11 (P246CfsX3) | Splenic flexure | 47 | Y^ | 0(9) | 0(11) | |
| 6 | c.736_741del6ins11 (P246CfsX3) | Ascending | 44 | N | 1(12) | 6(23) | |
| 7 | c.736_741del6ins11 (P246CfsX3) | Rectal | 29 | N | 0(1) | 3(8) | |
| 8 | c.736_741del6ins11 (P246CfsX3) | Ascending | 58 | N | 0(2) | 2(12) | |
| 9 | c.736_741del6ins11 (P246CfsX3) | Cecum | 57 | N | 0(3) | 1(7) | |
| 10 | c.736_741del6ins11 (P246CfsX3) | Cecum | 51 | N | 0(5) | 0(7) | |
| 11 | c.736_741del6ins11 (P246CfsX3) | Stomach | 67 | Y^ | 2(8) | 1(11) | |
| 12 | c.736_741del6ins11 (P246CfsX3) | Cecum | 48 | N | 0(2) | 2(10) | |
| 13 | exon 8 deletion | Transverse | 28 | N^ | 0(1) | 1(5) | |
| 14 | c.1840A>T(K614X) | Sigmoid | 74 | N^ | 2(5) | 0(11) | |
| 15 | c.1840A>T(K614X) | Endometrial | 56 | Y^ | 1(3) | 0(4) | |
| 16 | c.862_863del (Q288VfsX10) | Ascending | 54 | N | 0(3) | 3(15) | |
| 17 | c.592_593insT (I198IfsX51) | Colon | 42 | N^ | 0(4) | 2(8) | |
| 18 | c.861_864del (R287SfsX19) | Rectal | 39 | N | 0(3) | 0(10) | |
| 19 | c.1076_1077insT (L359FfsX6) | Endometrial | 49 | Cecum (57) | Y | 0(1) | 2(8) |
| 20 | c.903G>T (Skips exon 8) | Endometrial | 61 | Y | 0(1) | 0(15) | |
| 21 | c.903G>T (Skips exon 8) | Ascending | 54 | N | 0(3) | 0(16) | |
| 22 | c.903G>T (Skips exon 8) | Colon | 54 | Y | 0(2) | 2(3) | |
| 23 | Exon 1 deletion | Ascending | 56 | N | 0(3) | U | |
| 24 | c.1927C>T (Q643X) | Descending | 54 | N | 0(3) | 1(11) | |
| 25 | c.400C>T (R134X) | Ascending | 66 | N | 0(1) | 1(5) | |
| 26 | c.1831_1832insA (I611NfsX2) | Cecum | 60 | N | 0(3) | 1(13) | |
| 27 | c.1831_1832insA (I611NfsX2) | Colon | 39 | Y | 0(2) | 1(7) | |
| 28 | Complete gene deletion | Colon | 54 | Y | 2(3) | 0(4) | |
| 29 | Complete gene deletion | Sigmoid | 67 | N | 3(4) | 1(12) | |
| 30 | Exon 9 deletion | Transverse | 49 | N | 0(3) | 1(13) | |
| 31 | c.137G>T (S46I) | Cecum | 32 | N^ | 0(1) | 0(5) | |
| 32 | c.137G>T (S46I) | Cecum | 47 | N | 0(4) | U | |
| 33 | c.137G>T (S46I) | Sigmoid | 44 | N^ | 0(4) | 2(15) | |
| 34 | c.137G>T (S46I) | Small intestine | 46 | N | 0(1) | 0(2) | |
| 35 | c.137G>T (S46I) | Transverse | 43 | N | 0(0) | 1(13) | |
| 36 | c.137G>T (S46I) | Sigmoid | 62 | Ascending (62) | N | 0(3) | 0(15) |
| 37 | c.2113G>A (E705K) | Colon | 61 | Y^ | 0(0) | U | |
| 38 | c.2113G>A (E705K) | Hepatic flexure | 50 | Y | 0(1) | 3(13) | |
| 39 | c.705+1G>T (Loss of splice donor site) | Endometrial | 34 | Colon (58) | N | 0(1) | 2(14) |
| 40 | c.2007−1G>A (Loss of splice acceptor site) | Rectosigmoid | 77 | N | 0(3) | U | |
| 41 | c.2174+1G>A (Loss of splice donor site) | Colon | 71 | Colon (71) | Y | 0(10) | U |
| 42 | c.1738A>T (K580X) | Transverse | 49 | N | 0(9) | U | |
| 43 | c.1939A>T (K647X) | Sigmoid | 42 | N | 0(1) | 3(11) | |
| 44 | deletion of exons 5, 6, 7 | Cecum | 50 | N | 0(1) | 0(7) | |
| 45 | deletion of exons 5, 6, 7 | Ascending | 37 | N | 0(5) | 1(10) | |
| 46 | deletion exon 2 | Cecum | 46 | N | 0(5) | 0(10) | |
| 47 | c.1021delA (R341GfsX15) | Transverse | 49 | Y | 0(2) | 2(11) | |
| 48 | c.2404C>T (R802X) | Colon | 36 | Rectum (37) | Y | 0(2) | U |
| 49 | c.949C>T (Q317X) | Ascending | 39 | N | 0(2) | 0(6) | |
| 50 | c.802_803insT (Y268LfsX31) | Sigmoid | 59 | Y | 0(1) | 2(15) | |
| 51 | Exon 10 deletion | Endometrial | 30 | Cecum (44) | N | 0(2) | 1(15) |
| 52 | Exon 10 deletion | Ascending | 60 | N | 0(2) | 0(5) | |
| 53 | Exon 10 deletion | Rectal | 45 | Y | 0(2) | 0(11) | |
| 54 | Exon 11-12 deletion | Ascending | 51 | N | 0(2) | U | |
| 55 | c.2192_2196delTAACT (L731CfsX3) | Transverse | 23 | N | New mutation |
*
Affected with any of the following cancers: colorectal, endometrial, stomach, ovarian, pancreatic, ureter and renal pelvis, biliary tract, brain tumors, and small bowel. Dx = diagnosis; TCC = transitional cell carcinoma; U = unknown;
^
= de novo mutation excluded