ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Mismatch repair cancer syndrome (MMRCS)
Gene/Gene Panel: MLH1, MSH2, MSH6, PMS2
Context: Adult
2022/12/06
Released
1.0.0
Morbidity and mortality from constitutional mismatch repair deficiency-related neoplasia
(GroupA)
Evaluation and surveillance by specialist(s) to detect neoplasia and guide treatment
(GroupA)
9CN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MLH1
⇔
0031219 MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1
Moderate Actionability
Moderate Actionability
MSH2
⇔
0031219 MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2
Moderate Actionability
Moderate Actionability
MSH6
⇔
0031219 MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3
Moderate Actionability
Moderate Actionability
PMS2
⇔
0031219 MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4
Moderate Actionability
Moderate Actionability
2022/10/26
In Preparation
N/A
We have begun assessment of the Adult context for this topic