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Bonis PA, Trikalinos TA, Chung M, et al. Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications. Rockville (MD): Agency for Healthcare Research and Quality (US); 2007 May. (Evidence Reports/Technology Assessments, No. 150.)

  • This publication is provided for historical reference only and the information may be out of date.

This publication is provided for historical reference only and the information may be out of date.

Cover of Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications.

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Appendix F. Summary Tables on Clinical Validity

Table F-1. Prevalence of mismatch repair gene mutations among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-1. Prevalence of mismatch repair gene mutations among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-1

Prevalence of mismatch repair gene mutations among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-2. Prevalence of MLH1 and MSH2 mutations among colorectal cancer probands who fulfill Amsterdam II criteria.

Table F-2. Prevalence of MLH1 and MSH2 mutations among colorectal cancer probands who fulfill Amsterdam II criteria.

Table F-2

Prevalence of MLH1 and MSH2 mutations among colorectal cancer probands who fulfill Amsterdam II criteria.

Table F-3. Prevalence of microsatellite instability among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-3. Prevalence of microsatellite instability among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-3

Prevalence of microsatellite instability among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-4. Prevalence of microsatellite instability among colorectal cancer probands who fulfill Amsterdam II criteria.

Table F-4. Prevalence of microsatellite instability among colorectal cancer probands who fulfill Amsterdam II criteria.

Table F-4

Prevalence of microsatellite instability among colorectal cancer probands who fulfill Amsterdam II criteria.

Table F-5. Prevalence of negative immunostaining for MLH1 or MSH2 among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-5. Prevalence of negative immunostaining for MLH1 or MSH2 among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-5

Prevalence of negative immunostaining for MLH1 or MSH2 among colorectal cancer probands who fulfill Amsterdam I criteria.

Table F-6. Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-6. Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-6

Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-7. Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-7. Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-7

Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-8. Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the Bethesda guidelines.

Table F-8. Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the Bethesda guidelines.

Table F-8

Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the Bethesda guidelines.

Table F-9. Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling Amsterdam II criteria.

Table F-9. Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling Amsterdam II criteria.

Table F-9

Ability of Amsterdam I criteria to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling Amsterdam II criteria.

Table F-10. Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-10. Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-10

Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-11. Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands..

Table F-11. Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-11

Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-12. Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands fulfilling the Revised Bethesda criteria.

Table F-12. Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands fulfilling the Revised Bethesda criteria.

Table F-12

Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands fulfilling the Revised Bethesda criteria.

Table F-13. Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands fulfilling the Bethesda guidelines.

Table F-13. Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands fulfilling the Bethesda guidelines.

Table F-13

Ability of Amsterdam II criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands fulfilling the Bethesda guidelines.

Table F-14. Ability of modified Amsterdam criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-14. Ability of modified Amsterdam criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-14

Ability of modified Amsterdam criteria to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-15. Ability of Bethesda guidelines to identify MLH1 and MSH2 mutation carriers.

Table F-15. Ability of Bethesda guidelines to identify MLH1 and MSH2 mutation carriers.

Table F-15

Ability of Bethesda guidelines to identify MLH1 and MSH2 mutation carriers.

Table F-16. Ability of Bethesda guidelines to identify MLH1 and MSH2 mutation carriers among unselected patients with colorectal cancer.

Table F-16. Ability of Bethesda guidelines to identify MLH1 and MSH2 mutation carriers among unselected patients with colorectal cancer.

Table F-16

Ability of Bethesda guidelines to identify MLH1 and MSH2 mutation carriers among unselected patients with colorectal cancer.

Table F-17. Ability of revised Bethesda guidelines to identify MLH1 and MSH2 mutation carriers among unselected patients with colorectal cancer.

Table F-17. Ability of revised Bethesda guidelines to identify MLH1 and MSH2 mutation carriers among unselected patients with colorectal cancer.

Table F-17

Ability of revised Bethesda guidelines to identify MLH1 and MSH2 mutation carriers among unselected patients with colorectal cancer.

Table F-18. Ability of Ability of young age at diagnosis (early disease onset) to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-18. Ability of Ability of young age at diagnosis (early disease onset) to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-18

Ability of Ability of young age at diagnosis (early disease onset) to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-19. Ability of Ability of young age at diagnosis (early disease onset) to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-19. Ability of Ability of young age at diagnosis (early disease onset) to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-19

Ability of Ability of young age at diagnosis (early disease onset) to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-20. Ability of familial history of malignancy to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-20. Ability of familial history of malignancy to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-20

Ability of familial history of malignancy to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-21. Ability of familial history of malignancy to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-21. Ability of familial history of malignancy to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-21

Ability of familial history of malignancy to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-22. Ability of presence of multiple tumors to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-22. Ability of presence of multiple tumors to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-22

Ability of presence of multiple tumors to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-23. Ability of presence of combined family history of colorectal cancer, young age at onset or presence of multiple tumors to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-23. Ability of presence of combined family history of colorectal cancer, young age at onset or presence of multiple tumors to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-23

Ability of presence of combined family history of colorectal cancer, young age at onset or presence of multiple tumors to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-24. Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-24. Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-24

Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands.

Table F-25. Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-25. Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-25

Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among unselected colorectal cancer probands.

Table F-26. Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the revised Bethesda criteria.

Table F-26. Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the revised Bethesda criteria.

Table F-26

Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the revised Bethesda criteria.

Table F-27. Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the Amsterdam I criteria.

Table F-27. Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the Amsterdam I criteria.

Table F-27

Ability of microsatellite instability to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling the Amsterdam I criteria.

Table F-28. Ability of immunohistochemistry to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-28. Ability of immunohistochemistry to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-28

Ability of immunohistochemistry to identify MLH1 and MSH2 mutation carriers among selected colorectal cancer probands.

Table F-29. Ability of immunohistochemistry to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling Amsterdam I criteria.

Table F-29. Ability of immunohistochemistry to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling Amsterdam I criteria.

Table F-29

Ability of immunohistochemistry to identify MLH1 and MSH2 mutation carriers among colorectal cancer probands fulfilling Amsterdam I criteria.

Appendix F contains summary Tables (Appendices F-1 to F-29). Appendices F-1 to F-5 summarize the prevalence on mismatch repair (MMR) gene mutations, microsatellite instability or negative immunohistochemistry among patients fulfilling Amsterdam I or II criteria. Appendices F-6 to F-29 summarize the diagnostic ability of clinical and laboratory predictors to detect MMR gene mutations among different populations. Table 14 of the evidence report provides a roadmap to the different summary tables. For convenience, the information included in Table 14 of the Evidence Report is repeated after the following table of contents. Note that usually only MLH1 and MSH2 were assessed. Whenever additional genes were assessed (MSH6 or PMS2), they are clearly noted in the Tables and footnotes.

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