INSR
Overview
INSR encodes the Insulin Receptor, a receptor tyrosine kinase mediating metabolic and mitogenic responses to insulin. Germline variants in INSR have been identified as rare candidate predisposition alleles in hereditary diffuse gastric cancer (HDGC) families lacking CDH1 mutations.
Alterations observed in the corpus
- INSR is identified as an additional rare germline candidate variant from a Finnish HDGC exome study (Donner et al. 2015) in CDH1-negative hereditary diffuse gastric cancer families; awaits external validation. PMID:24816255
Cancer types (linked)
- STAD (gastric adenocarcinoma): Rare germline candidate in familial non-hereditary gastric cancer (FNHGC) and HDGC-like families without identifiable CDH1 driver mutations. PMID:24816255
Co-occurrence and mutual exclusivity
- Co-candidate with FBXO24 as a germline variant in CDH1-negative HDGC; the two were identified together in the same Finnish exome cohort. PMID:24816255
Therapeutic relevance
- No direct therapeutic targeting of INSR reported in this corpus for gastric cancer; the role is as a germline predisposition candidate.
Open questions
- INSR germline variants are family-specific findings from a single exome cohort; functional validation and replication in independent HDGC/FNHGC series are lacking.
Sources
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