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. Author manuscript; available in PMC: 2016 Dec 16.
Published in final edited form as: J Med Genet. 2014 Oct 3;51(12):789–796. doi: 10.1136/jmedgenet-2014-102552

Table 3.

Pre- and Post-test probabilities of being an MLH1 mutation carrier for three a priori risk groups

*ACII *BG & *1dMMR
tumour
General population &
*1dMMR tumour
Pre-test probability 60% (6) 10.5% (21–23) 4.0% (23–26)
Post-test normal MLH1 promoter region True positive 85.5% 31.4% 14.0%
False negative 12.6% 1.2% 0.4%
Post-test wt BRAF True positive 74.9% 19.0% 7.7%
False negative 17.5% 1.6% 0.6%
Post-test wt BRAF OR normal MLH1 True positive 71.6 18.5 7.7
False negative 13.1 1.31 0.6
Post-test wt BRAF AND normal MLH1 True positive 86.9 33.5 15.5%
False negative 22.9 2.3 0.8%

AC = Amsterdam criteria and BC = Bethesda guidelines

*1

dMMR tumour = MLH1 loss on immunohistochemistry or MSI-H