Skip to main content

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.