ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Familial Adenomatous Polyposis
Gene/Gene Panel: APC
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
3.0.5
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
APC ⇔ 0021057 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
3.0.4
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
Link to complimentary ACMG ACT sheet added to "Patient Management" section
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
APC ⇔ 0021057 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
Strong Actionability
Strong Actionability
2021/05/06
Released
3.0.4
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
Link to complimentary ACMG ACT sheet added to "Patient Management" section
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
APC ⇔ 0021057 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
Strong Actionability
Strong Actionability
2021/05/03
Released (Under revision)
3.0.3
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
APC ⇔ 0021057 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
Strong Actionability
Strong Actionability
2021/03/29
Released
3.0.3
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
APC ⇔ 0021057 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
Strong Actionability
Strong Actionability
2021/01/06
Released (Under revision)
3.0.2
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
2020/08/17
Released
3.0.2
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
2020/08/17
Released (Under revision)
3.0.1
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
2020/05/04
Released
3.0.1
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
2020/04/30
Released (Under revision)
3.0.0
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
2020/04/29
Released
3.0.0
A
Morbidity and mortality due to advanced-stage thyroid cancer (GroupA)
Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment (GroupA) 8AD
Morbidity and mortality due to colorectal cancer (GroupA)
Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy (GroupA) 10CB
Morbidity and mortality due to upper GI (stomach and duodenum) cancer (GroupA)
Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment (GroupA) 8CA
2020/01/29
Released (Under revision)
2.2.0
A
Advanced-stage thyroid cancer (GroupA)
Annual surveillance (GroupA) 5CD
Colorectal cancer (GroupA)
(Procto)colectomy (GroupA) 9AB
Colorectal cancer (AFAP only) (GroupA)
Colonoscopy with polypectomy (GroupA) 9AB
Morbidity from desmoid tumor (GroupA)
Regular physical exam and imaging (GroupA) 7AB
Upper GI (stomach or duodenum) cancer (GroupA)
Periodic EGD (GroupA) 8CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
2.2.0
A
Advanced-stage thyroid cancer (GroupA)
Annual surveillance (GroupA) 5CD
Colorectal cancer (GroupA)
(Procto)colectomy (GroupA) 9AB
Colorectal cancer (AFAP only) (GroupA)
Colonoscopy with polypectomy (GroupA) 9AB
Morbidity from desmoid tumor (GroupA)
Regular physical exam and imaging (GroupA) 7AB
Upper GI (stomach or duodenum) cancer (GroupA)
Periodic EGD (GroupA) 8CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
2.1.0
A
Advanced-stage thyroid cancer
Annual surveillance 5CD
Colorectal cancer
(Procto)colectomy 9AB
Colorectal cancer (AFAP only)
Colonoscopy with polypectomy 9AB
Morbidity from desmoid tumor
Regular physical exam and imaging 7AB
Upper GI (stomach or duodenum) cancer
Periodic EGD 8CB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
2.0.1
A
Advanced-stage thyroid cancer
Annual surveillance 5CD
Colorectal cancer
(Procto)colectomy 9AB
Colorectal cancer (AFAP only)
Colonoscopy with polypectomy 9AB
Morbidity from desmoid tumor
Regular physical exam and imaging 7AB
Upper GI (stomach or duodenum) cancer
Periodic EGD 8CB
Internal system migration related to score text replacement from E to N
2018/08/21
Released
2.0.0
A
Advanced-stage thyroid cancer
Annual surveillance 5CD
Colorectal cancer
(Procto)colectomy 9AB
Colorectal cancer (AFAP only)
Colonoscopy with polypectomy 9AB
Morbidity from desmoid tumor
Regular physical exam and imaging 7AB
Upper GI (stomach or duodenum) cancer
Periodic EGD 8CB
2018/07/27
Released (Under revision)
1.0.2
A
Colorectal Cancer
Colectomy 8AB
2018/07/27
Released
1.0.2
A
Colorectal Cancer
Colectomy 8AB
2018/07/26
Released (Under revision)
1.0.1
A
Colectomy
Colorectal Cancer 8AB
2018/01/11
Released
1.0.1
A
Colectomy
Colorectal Cancer 8AB
2017/10/23
Released
1.0.0
A
Colectomy
Colorectal Cancer 8AB
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