Table 3.
MMR genes mutation spectrum in Hispanic patients
| MLH1 a | MSH2 a | |||||||
|---|---|---|---|---|---|---|---|---|
| Study | Population | n | Exon | Mutation | Protein Change | Exon | Mutation | Protein Change |
| Cruz-Correa et al. 2015 [57] | Puerto Rico | 89 | 11 | c.1024del16 | p.Met342Cysfs*25 | 5 | c.905 T > A | p.Leu302* |
| 18 | c.2044_2045delAT | p.Met682Valfs*11 | 11 | c.1705delGA | p.Glu569Ilefs*2 | |||
| 16 | c.1855delG | p.Ala619Leufs*18 | 9 | c.1457del4 | p.Asn486Thrfs*10 | |||
| 1–3 | c.(?_-68)_645 + ?del (exon deletion) | |||||||
| Giraldo et al. 2005 [56] | Colombia | 11 | 16 | c.1855delG | p.Ala619Leufs*18 | 3 | c.596delG | p.Cys199Leufs*15 |
| Wielandt et al. 2012 [58] | Chile | 35 fam | 14 to 15 | c.1559-?_1731 + ?del | p.Val520_Ser577 > Gfs*7 | 5 | c.897 T > G | p.Tyr299* |
| 19 | c.2104-?_2271 + ?del | p.Ser702_X757del | ||||||
| Sarroca et al. 2003 [55] | Uruguay | 461 | 1 | c.181C > T | p.Gln61* | |||
| 3 | c.530_531delAA | p.Glu177Valfs*3 | ||||||
| Vaccaro et al. 2007 [54] | Argentina | 306 | 16 | c.1852_1854del | p.Leu618del | 12 | c.1911del | p.Arg638Glyfs*47 |
| 3 | c.388_389del | p.Asn130Valfs*2 | ||||||
| InSIGHT [53] | Argentina | 8 | c.677G > A (missense) | p.Arg226Gln | 1 | c.166G > T | p.Glu56* | |
| 16 | c.1890dup | p.Asp631* | 3 | c.388_389del | p.Gln130Valfs*2 | |||
| 7 | c.1224 T > A | p.Tyr408* | ||||||
| 13 | c.2046_2047del | p.Val684Aspfs*14 | ||||||
| Brazil | 2 | c.175dup | p.Ile59Asnfs*20 | 1 | c.187del | p.Val63* | ||
| 8 | c.677G > A (missense) | p.Arg226Gln | 5 to 6 | c.793-?_1076 + ?del | p.Val265Ilefs*29 | |||
| 9 | c.779 T > G (missense) | p.Leu206Arg | 7 | c.1249del | p.Val417Leufs*21 | |||
| 12 | c.1276C > T | p.Gln426* | 9 | c.1444A > T | p.Arg482* | |||
| 13 | c.1459C > T | p.Arg487* | 9 | c.1447G > T | p.Glu483* | |||
| 14 | c.1639_1643dup | p.Leu549Tyrfs*44 | 11 | c.1667del | p.Leu556* | |||
| 16 | c.1853delinsTTCTT | p.Lys618Ilefs*4 | 11 | c.1738_1741delGAAAA | p.Glu580Leufs*9 | |||
| 17 | c.1975C > T | p.Arg659* | 12 | c.1967_1970dup | p.Asp660Glufs*3 | |||
| 18 | c.2041G > A (missense) | p.Ala681Thr | 13 | c.2131C > T | p.Arg711* | |||
| 19 | c.2224C > T | p.Gln742* | 13 | c.2152C > T | p.Gln718* | |||
| 15 | c.2525_2526del | p.Glu842Valfs*3 | ||||||
| 16 | c.2785C > T | p.Arg929* | ||||||
| Puerto Rico | 10 | c.866_867dup | p.Pro290Thrfs*8 | |||||
| Uruguay | 8 | c.665del | p.Asn222Metfs*7 | 1 | c.181C > T | p.Gln61* | ||
| 3 | c.530_531 | p.Glu177Valfs*3 | ||||||
| Portugal | 10 | c.793C > T (missense) | p.Arg265Cys | |||||
| Spain | 2 | c.155_158del | p.Lys52ArgfsX4 | 3–6 | c.224-?_1003 + ?del | p.Ala123Ilefs*2 | ||
| 2 | c.199G > A (missense) | p.Gly67Arg | 4 | c.761del | p.Asn254Ilefs*20 | |||
| 4 | c.332C > T (missense) | p.Ala111Val | 4 | c.691delG | p.Asp231Thrfs*15 | |||
| 4 | c.350C > T (missense) | p.Thr117Met | 6 | c.1035G > A | p.Trp345* | |||
| 5 | c.382del | p.Ala128Glnfs*8 | 7 | c.1249_1253del | p.Val417Thrfs*7 | |||
| 8 | c.665del | p.Asn222Metfs*7 | 7 | c.1255C > T | p.Gln419* | |||
| 8 | c.677G > A (missense) | p.Arg226Gln | 9 | c.1399G > T | p.Glu467* | |||
| 9 | c.701delA | p.Glu234GlyfsX4 | ||||||
| 9 | c.731G > A (missense) | p.Gly244Asp | ||||||
| 13 | c.1420del | p.Arg747Glyfs*17 | ||||||
| 13 | c.1459C > T | p.Arg487* | ||||||
| 16 | c.1865 T > A (missense) | p.Leu622His | ||||||
| 16 | c.1893del | p.Asp631Glufs*6 | ||||||
aMissense mutations pathogenicity status was verified as pathogenic or likely pathogenic by the following databases: ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) and Invitae (http://clinvitae.invitae.com/)