This topic did not pass the early rule out stage due to insufficient evidence for actionability. Thus, this topic did not move forward for a full evidence curation and summary report. This topic may be reconsidered if additional evidence becomes available.
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Hereditary Breast and Ovarian Cancer
Actionability Pediatric Summary Report
Genes:
BRCA2
(HGNC:1101)
BRCA1
(HGNC:1100)
Mode(s) of Inheritance:Autosomal Dominant
The Actionability Summary Report is not available for this topic because there was insufficient evidence for actionability in the early rule out stage.
Assertions and Scores
Actionability Assertions
| Gene | Condition (MONDO ID) | OMIM ID | Final Assertion |
|---|---|---|---|
| BRCA2 | breast-ovarian cancer, familial, susceptibility to, 2 (0012933) | 612555 | N/A - Insufficient evidence: early rule-out |
| BRCA1 | breast-ovarian cancer, familial, susceptibility to, 1 (0011450) | 604370 | N/A - Insufficient evidence: early rule-out |
Early Rule-Out
Early Rule-Out Summary
Findings of Early Rule-Out Assessment
- Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition?
- Does the practice guideline or systematic review indicate that the result is actionable in one or more of the following ways?
- Is there an intervention that is initiated during childhood (<18 years of age) in an undiagnosed child with the genetic condition?
- Does the disease present outside of the neonatal period?
- Is this condition an important health problem?
- Is there at least on known pathogenic variant with at least moderate penetrance (≥40%) or moderate relative risk (≥2) in any population?
a. Patient Management
b. Surveillance or Screening
c. Circumstances to Avoid
