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©2007 Baishideng Publishing Group Co.
World J Gastroenterol. May 21, 2007; 13(19): 2727-2732
Published online May 21, 2007. doi: 10.3748/wjg.v13.i19.2727
Published online May 21, 2007. doi: 10.3748/wjg.v13.i19.2727
ProbandID | Probandphenotype1 | Familyphenotype2 | Gene | Exon | Nucleotide position ofthe mutation | Effect/Consequence of themutation | |
HFC003 | C25 | AI: | 9C, 1E | MLH1 | 2 | c.187G>A | p.D63N |
HFC077 | C53 | AI: | 3C, 1S | MLH1 | 16 | c.1852_1854del | p.K618del |
HFC100 | C39 | AI: | 5C, 3S, 1E | MLH1 | 18-19 | c.2078_2172del | p.E693_K724delAfsX8 |
HFC075 | C33 | AI: | 3C | MSH2 | 1-2 | c.1-?_c.366+?del | no protein? |
HFC048 | C31 | AI: | 6C | MSH2 | 3-7 | c.367-?_c.1226+?del | deletion of exons 3-7 |
HFC066 | C22 | AI: | 6C, 1S | MSH2 | 4 | c.759_762del | p.M253_N254delIfsX20 |
HFC108 | C30 | AI: | 5C, 1E | MSH2 | 7 | c.1226_1227del | p.Q409RfsX7 |
HFC014 | C29 | AI: | 3C | MSH2 | 10 | c.1661+1G>T | splice defect? |
HFC021 | C47 | AI: | 3C | MSH2 | 13 | c.2131C>T | p.R711X |
HFC050 | C36 | AII: | 2C, 1I | MLH1 | 8 | c.677G>A | p.R226Q |
HFC045 | C19 | AII: | 2C, 1E | MLH1 | 13 | c.1489_1490insC | p.R497fsX6 |
HFE063 | E47 | AII: | 1C, 2E | MLH1 | 16 | c.1875T>G | p.Y625X |
MPX050 | C36 | AII: | 2C, 2S, 1E, 1I | MLH1 | 19 | c.2141G>A | p.W714X |
HFC017 | C27 | AII: | 3C, 3E | MSH2 | 12 | c.1861C>T | p.R621X |
HFC072 | C35 | SH: | 1C | MLH1 | 13 | c.1411_1414del | p.K471_R472delDfsX19 |
HFC104 | C39 | SH: | 2C | MLH1 | 16 | c.1852_1853delinsGC | p.K618A |
HFC078 | C53 | SH: | 1C | MSH2 | 1 | c.146A>T | p.D49V |
HFC074 | C45, 50, 55 | SH: | 4C | MSH2 | 15 | c.2620_2621ins115 | p.Y874CfsX3 |
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Citation: Papp J, Kovacs ME, Olah E. Germline
MLH1 andMSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: Implications for genetic testing. World J Gastroenterol 2007; 13(19): 2727-2732 - URL: https://www.wjgnet.com/1007-9327/full/v13/i19/2727.htm
- DOI: https://dx.doi.org/10.3748/wjg.v13.i19.2727