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GENE - TERM ANNOTATION REPORT

RGD ID: 1621892
Species: Mus musculus
RGD Object: Gene
Symbol: Spink14
Name: serine peptidase inhibitor, Kazal type 14
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)
Spink14 ISOSPINK14 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary cancer-predisposing syndromePMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532
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