ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Lynch Syndrome
Gene/Gene Panel: MLH1, MSH2, MSH6, PMS2, EPCAM
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2023/06/28
Released
1.1.5
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Internal system migration to amend the actionability rationale with respect to the assertion, definitive actionability.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MLH1 ⇔ 0012249 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2
Strong Actionability
Definitive Actionability
MSH2 ⇔ 0007356 LYNCH SYNDROME I
Strong Actionability
Definitive Actionability
MSH6 ⇔ 0013710 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
Strong Actionability
Definitive Actionability
PMS2 ⇔ 0013699 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4
Strong Actionability
Strong Actionability
EPCAM ⇔ 0013196 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8
Strong Actionability
Definitive Actionability
2023/06/28
Released (Under revision)
1.1.4
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MLH1 ⇔ 0012249 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2
Strong Actionability
Definitive Actionability
MSH2 ⇔ 0007356 LYNCH SYNDROME I
Strong Actionability
Definitive Actionability
MSH6 ⇔ 0013710 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
Strong Actionability
Definitive Actionability
PMS2 ⇔ 0013699 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4
Strong Actionability
Strong Actionability
EPCAM ⇔ 0013196 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8
Strong Actionability
Definitive Actionability
2022/04/19
Released
1.1.4
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
MLH1 ⇔ 0012249 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2
Strong Actionability
Definitive Actionability
MSH2 ⇔ 0007356 LYNCH SYNDROME I
Strong Actionability
Definitive Actionability
MSH6 ⇔ 0013710 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
Strong Actionability
Definitive Actionability
PMS2 ⇔ 0013699 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4
Strong Actionability
Strong Actionability
EPCAM ⇔ 0013196 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8
Strong Actionability
Definitive Actionability
2022/03/07
Released (Under revision)
1.1.3
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.1.3
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.1.2
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Added MONDO IDs.
2020/04/22
Released
1.1.2
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Added MONDO IDs.
2020/04/22
Released (Under revision)
1.1.1
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
1.1.1
A
Colorectal cancer (GroupA)
Surveillance (GroupA) 10AA
Endometrial Cancer (GroupA)
Surveillance (GroupA) 8AA
Risk Reducing Surgery (GroupA) 9AB
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2019/10/03
Released (Under revision)
1.1.0
A
Colorectal cancer
Surveillance 10AA
Endometrial Cancer
Risk Reducing Surgery 9AB
Surveillance 8AA
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
A
Colorectal cancer
Surveillance 10AA
Endometrial Cancer
Risk Reducing Surgery 9AB
Surveillance 8AA
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.1
A
Colorectal cancer
Surveillance 10AA
Endometrial Cancer
Risk Reducing Surgery 9AB
Surveillance 8AA
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.0
A
Colorectal cancer
Surveillance 10AA
Endometrial Cancer
Risk Reducing Surgery 9AB
Surveillance 8AA
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