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Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency.

Shia J, Zhang L, Shike M, Guo M, Stadler Z, Xiong X, Tang LH, Vakiani E, Katabi N, Wang H, Bacares R, Ruggeri J, Boland CR, Ladanyi M, Klimstra DS.

Mod Pathol. 2013 Jan;26(1):131-8. doi: 10.1038/modpathol.2012.138. Epub 2012 Aug 24.


PMS2 monoallelic mutation carriers: the known unknown.

Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM.

Genet Med. 2016 Jan;18(1):13-9. doi: 10.1038/gim.2015.27. Epub 2015 Apr 9. Review.

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