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Table 1 Summary of molecular studies that investigated mismatch repair (MMR) deficiency status of breast cancer in Lynch syndrome

From: Risk of breast cancer in Lynch syndrome: a systematic review

Single case reports      
Author Year Country Method MMR gene mutated/absence of
MMR protein in IHC/MSI status
Age, years
Boyd et al. [25] 1999 USA MSI, IHC MLH1/MLH1 loss/MSI-H 71 (male)
Caluseriu et al. [26] 2001 Italy MSI MLH1/NR/MSS  
Westenend et al. [27] 2005 The Netherlands MSI, IHC MSH2/MSH2 and MSH6/MSI-H 49
Akoum et al. [28] 2009 Lebanon MSI, IHC MSH2/MSH2 and MSH6/MSS 26
D'Arcy et al. [29] 2011 USA IHC MSH2/MSH2 and MSH6/NR 74
Case series      
Author Year Country Method Number of MMR-deficient breast cancers/
number of MMR gene mutation carriers
Age, years,
mean ± SD
Risinger et al. [30] 1996 USA MSI, IHC 3/5 (60%) NR
Muller et al. [31] 2002 USA MSI, IHC 0/3 (0%) NR
de Leeuw et al. [32] 2003 The Netherlands MSI 7/11 (64%) 43.6 ± 9.2
Blokhuis et al. [33] 2008 South Africa MSI, IHC 5/6 (83%) 51.8 ± 16.9
Shanley et al. [34] 2009 Australia MSI, IHC 3/4 (75%) 65.0 ± 12.3
Jensen et al. [35] 2010 Denmark IHC 7/16 (44%) 50.4 ± 13.1
Walsh et al. [36] 2010 Australia, USA, Canada MSI, IHC 18/35 (51%) 57.5 ± 8.1
Buerki et al. [37] 2012 Switzerland MSI, IHC 6/7 (86%) 53.7 ± 15.2
Lotsari et al. [38] 2012 Finland MSI, IHC 13/20 (65%) 52.7 ± 7.0
Grandval et al. [39] 2012 France MSI 0/15 (0%) 53.1 ± 10.0
  1. IHC, immunohistochemistry; MSI, microsatellite instability; MMR, mismatch repair; MSI-H, high microsatellite instability; MSS, microsatellite stable; NR, not reported.