Skip to main content
. 2017 Feb 21;8(15):24533–24547. doi: 10.18632/oncotarget.15593

Table 2. Known germline pathogenic variants in CRC predisposing genes for early-onset CRC.

Gene Proband (gender) Age Diagnosis Family history cDNA change Protein change %Var. Reads Var. Reads Total Reads LOVDb MMRc ClinVard InSiGHTe
APC (NM_001127510.2, NP_001120982.1) 12B-ON1914BD1 (M) 32 Tubular adenoma of colon (multiple) Father CRC and death; uncle CRC and death, grandmother CRC and death c.694C>T p.Arg232Ter 38 1808 4758 62 +/+ NR Path. NA
13B-ON3307BD1 (F) 25 Rectal polyps and rectal cancer NA c.3202_3205delTCAA p.Ser1068Glyfs*57 25 614 2456 65 +/+ NR Path. NA
14B-ON3493BD1 (F) 33 Rectal cancer NA c.3202_3205delTCAA p.Ser1068Glyfs*57 29 735 2534 65 +/+ NR Path. NA
13B-ON2394BD1 (F) 26 Colon polpys (multiple) Mother FAP c.3807_3808delAT p.Ile1269Metfs*6 50 820 1640 2 +/+ NR Path. NA
12B-ON1849BD1 (F) 23 Tubular adenoma of colon (multiple) Mother FAP at 45 yr and death; old brother FAP at 22 yr and death; young brother FAP at 22 yr c.3885delA p.Ala1296Glnfs*9 32 529 1653 1 +/+ NR NR NA
MLH1 (NM_000249.2, NP_000240.1) H38 (M) 34 Rectal cancer NA c.676C>T p.Arg226Ter 33 3255 9864 27 ?/?, 18 +/?, 2 +/+ NR Path. NA
B838 (F) 29 Rectal cancer NA c.793C>T p.Arg265Cys 39 823 2110 11 –/?, 1 –?/?, 28 ?/?, 4, +?/?, 19 +/?, 1 +/+ 8 Inc., 14 NonPath., 14 Path. Path. Class 5
B1366 (M) 32 Sigmoid colon cancer NA c.887T>G p.Leu296Ter 39 260 667 2 ?/? NR Path. Class 5
14B-ON3619BD1 (M) 31 Sigmoid colon cancer NA c.1742C>T p.Pro581Leu 47 2681 5704 1 –/?, 8 ?/?, 3 +/? 1 Inc., 1 NonPath., 3 Path. Path. Class 2
MSH2 (NM_000251.2, NP_000242.1) 12B-ON1922BD1 (M) 34 Colon cancer NA c.1457_1460delATGA p.Asn486Thrfs*10 27 1734 6422 15 ?/?, 1 +/+ NR Path. Class 5
12B-ON2092BD1 (M) 23 Colon cancer Mother rectal cancer and uncle colon cancer c.1457_1460delATGA p.Asn486Thrfs*10 33 159 482 15 ?/?, 1 +/+ NR Path. Class 5
MUTYH (NM_001128425.1, NP_001121897.1) 13B-ON3015BD1 (M) 21 Rectal cancer and anal cancer NA c.934-2A>G p.(Glu313Serfs*8)a 43 79 184 4 ?/+?, 3 +/+? NR NR NA
13B-ON2469BD1 (M) 31 Sigmoid colon cancer NA c.934-2A>G p.(Glu313Serfs*8)a 33 72 218 4 ?/+?, 3 +/+? NR NR NA