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Table 3.

Summary of variations discovered in PARP1, MSH2, DDB1, DCLRE1C, MLH3, and XRCC5 after sequencing of expanded DLBCL cohorts

Gene DNA Protein Method Novel/SNP Somatic/germline Ethnicorigin MAF 1,000genomes‡ SIFT Polyphen 
PARP1 c.1897A>T p.K633X Sanger Novel Somatic Chinese 
 c.1910_1922delinsGTT p.(K637Sfs*13) Selector & Sanger Novel Somatic Chinese 
 c.2326A>G p.S776G Selector & Sanger Novel Germline Chinese Damaging Damaging (possibly) 
 c.2756T>C p.I919T Sanger Novel ND Chinese Damaging Damaging (possibly) 
 c.2789A>G p.Y930C Sanger rs189410139 ND Chinese 0.003 Damaging Damaging (probably) 
 c.3037C>A p.L1013M Sanger rs138906127 ND Swedish 0.001 Tolerated Damaging (possibly) 
MSH2 c.1316C>T p.P439L Sanger Novel ND Chinese Damaging Damaging (probably) 
 c.1619A>G p.S540G Selector & Sanger Novel Somatic Chinese Tolerated Benign 
 c.2498C>G p.L833V Selector & Sanger Novel Somatic Chinese Damaging Benign 
 c.505A>G p.I169V Sanger rs63750716 ND Chinese Tolerated Benign 
DDB1 c.26C>G p.A9G Selector Novel Somatic Chinese Damaging Damaging (probably) 
 c.2375_2376dupTT p.(I793Lfs*75) 454 amplicon Novel ND Chinese 
 c.3360G>A p.M1120I 454 amplicon Novel ND Swedish Tolerated Benign 
DCLRE1C c.536G>A p.R179Q 454 amplicon rs150854849 ND Swedish Damaging Damaging (probably) 
 c.1628_1632delTAACA p.(I543Rfs*12) Selector Novel Somatic Chinese 
MLH3 c.119G>A p.C40Y Selector Novel Germline Chinese Damaging Damaging (probably) 
 c.365A>G p.K122R 454 amplicon Novel ND Chinese Damaging Damaging (probably) 
 c.2221G>T p.V741I 454 amplicon rs28756990 ND Swedish 0.004 Tolerated Damaging (possibly) 
 c.2837C>T p.S946F Selector rs201441389 Germline Chinese 0.003 Tolerated Damaging (possibly) 
 c.2964C>G p.I988M Selector Novel Germline Chinese Damaging Benign 
 c.3331C>T p.L1111F Selector Novel Germline Chinese Damaging Damaging (probably) 
XRCC5 c.847A>G p.T283A Selector Novel Somatic Chinese Damaging Damaging (probably) 
 c.1046C>A p.S349Y 454 amplicon Novel Germline Chinese Damaging Damaging (probably) 
 c.1522A>G p.I508V 454 amplicon rs2287558 ND Swedish 0.003 Tolerated Benign 
Gene DNA Protein Method Novel/SNP Somatic/germline Ethnicorigin MAF 1,000genomes‡ SIFT Polyphen 
PARP1 c.1897A>T p.K633X Sanger Novel Somatic Chinese 
 c.1910_1922delinsGTT p.(K637Sfs*13) Selector & Sanger Novel Somatic Chinese 
 c.2326A>G p.S776G Selector & Sanger Novel Germline Chinese Damaging Damaging (possibly) 
 c.2756T>C p.I919T Sanger Novel ND Chinese Damaging Damaging (possibly) 
 c.2789A>G p.Y930C Sanger rs189410139 ND Chinese 0.003 Damaging Damaging (probably) 
 c.3037C>A p.L1013M Sanger rs138906127 ND Swedish 0.001 Tolerated Damaging (possibly) 
MSH2 c.1316C>T p.P439L Sanger Novel ND Chinese Damaging Damaging (probably) 
 c.1619A>G p.S540G Selector & Sanger Novel Somatic Chinese Tolerated Benign 
 c.2498C>G p.L833V Selector & Sanger Novel Somatic Chinese Damaging Benign 
 c.505A>G p.I169V Sanger rs63750716 ND Chinese Tolerated Benign 
DDB1 c.26C>G p.A9G Selector Novel Somatic Chinese Damaging Damaging (probably) 
 c.2375_2376dupTT p.(I793Lfs*75) 454 amplicon Novel ND Chinese 
 c.3360G>A p.M1120I 454 amplicon Novel ND Swedish Tolerated Benign 
DCLRE1C c.536G>A p.R179Q 454 amplicon rs150854849 ND Swedish Damaging Damaging (probably) 
 c.1628_1632delTAACA p.(I543Rfs*12) Selector Novel Somatic Chinese 
MLH3 c.119G>A p.C40Y Selector Novel Germline Chinese Damaging Damaging (probably) 
 c.365A>G p.K122R 454 amplicon Novel ND Chinese Damaging Damaging (probably) 
 c.2221G>T p.V741I 454 amplicon rs28756990 ND Swedish 0.004 Tolerated Damaging (possibly) 
 c.2837C>T p.S946F Selector rs201441389 Germline Chinese 0.003 Tolerated Damaging (possibly) 
 c.2964C>G p.I988M Selector Novel Germline Chinese Damaging Benign 
 c.3331C>T p.L1111F Selector Novel Germline Chinese Damaging Damaging (probably) 
XRCC5 c.847A>G p.T283A Selector Novel Somatic Chinese Damaging Damaging (probably) 
 c.1046C>A p.S349Y 454 amplicon Novel Germline Chinese Damaging Damaging (probably) 
 c.1522A>G p.I508V 454 amplicon rs2287558 ND Swedish 0.003 Tolerated Benign 

For expanded DLBCL cohort, PARP1 and MSH2 genes were analyzed in 130 (95 Chinese and 35 Swedish) and 94 (59 Chinese and 35 Swedish) DLBCL samples, respectively, whereas DDB1, DCLRE1C, MLH3, and XRCC5 genes were sequenced in 48 (25 Chinese and 23 Swedish) DLBCL samples. MAF 1,000 genomes data were available for 379 European and 197 Chinese controls. ND, not determined.

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