Update History
Condition: PTEN Hamartoma Tumor Syndrome - Cowden Syndrome
Gene/Gene Panel: PTEN
Context: Adult
2022/01/14
Released
(Under revision)
2.1.2
Morbidity due to breast cancer
(GroupA)
Surveillance to detect breast tumors and guide treatment
(GroupA)
10CB
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
10AC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PTEN
⇔
0008020 COWDEN SYNDROME 1; CWS1
Strong Actionability
Strong Actionability
2021/06/21
Released
2.1.2
Morbidity due to breast cancer
(GroupA)
Surveillance to detect breast tumors and guide treatment
(GroupA)
10CB
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
10AC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PTEN
⇔
0008020 COWDEN SYNDROME 1; CWS1
Strong Actionability
Strong Actionability
2021/06/21
Released
(Under revision)
2.1.1
Morbidity due to breast cancer
(GroupA)
Surveillance to detect breast tumors and guide treatment
(GroupA)
10CB
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
10AC
Added MONDO IDs.
2020/04/16
Released
2.1.1
Morbidity due to breast cancer
(GroupA)
Surveillance to detect breast tumors and guide treatment
(GroupA)
10CB
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
10AC
Added MONDO IDs.
2020/02/13
Released
(Under revision)
2.1.0
Breast cancer
(GroupA)
Surveillance
(GroupA)
10CB
Thyroid cancer
(GroupA)
Surveillance
(GroupA)
9AC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
2.1.0
Breast cancer
(GroupA)
Surveillance
(GroupA)
10CB
Thyroid cancer
(GroupA)
Surveillance
(GroupA)
9AC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/05/21
Released
(Under revision)
1.1.0
Breast cancer
Regular screening
10CB
Thyroid cancer
Thyroid ultrasounds
9CB
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
Breast cancer
Regular screening
10CB
Thyroid cancer
Thyroid ultrasounds
9CB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
Breast cancer
Regular screening
10CB
Thyroid cancer
Thyroid ultrasounds
9CB
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.1
Breast cancer
Regular screening
10CB
Thyroid cancer
Thyroid ultrasounds
9CB
2017/11/01
Released
1.0.0
Breast cancer
Regular screening
10CB
Thyroid cancer
Thyroid ultrasounds
9CB