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GENE - TERM ANNOTATION REPORT

RGD ID: 1304726
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Smarce1
Name: SWI/SNF related BAF chromatin remodeling complex subunit E1
Acc ID: DOID:9007071
Term: Hereditary Neoplastic Syndromes
Definition: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Definition Source(s): MESH:D009386
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Smarce1 ISOSMARCE1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, HereditaryPMID:16199547 PMID:17576681 PMID:23377182 PMID:25143307 PMID:25168959 PMID:25169753 PMID:25741868 PMID:26803492 PMID:27891692 PMID:28492532 PMID:29625052 PMID:30209809 PMID:9536098
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