GSTM1
Overview
GSTM1 encodes Glutathione S-Transferase Mu 1, a phase II detoxification enzyme that conjugates glutathione to electrophilic compounds. GSTM1 is subject to a common germline deletion polymorphism (null allele) that abolishes enzymatic activity, increasing susceptibility to carcinogen-induced DNA damage. The null genotype is a low-penetrance gastric cancer risk factor.
Alterations observed in the corpus
- GSTM1-null polymorphism confers a small individually low-risk increment for gastric cancer; clustering of GSTM1-null and other xenobiotic-metabolism variants in a single family may contribute to familial gastric cancer aggregation. PMID:24816255
Cancer types (linked)
- STAD (gastric adenocarcinoma): GSTM1-null is a GWAS-identified low-penetrance susceptibility variant; relevant to familial non-hereditary gastric cancer (FNHGC) risk assessment when clustered with other low-penetrance alleles. PMID:24816255
Co-occurrence and mutual exclusivity
- Co-listed with XRCC1 and other DNA-repair/xenobiotic-metabolism variants as low-penetrance GWAS susceptibility loci for gastric cancer. PMID:24816255
Therapeutic relevance
- No direct therapeutic targeting; the null genotype may inform carcinogen-exposure counseling.
Open questions
- Polygenic risk scores incorporating GSTM1 null and other low-penetrance variants are not yet clinically actionable due to small per-variant effect sizes and limited ancestry portability.
Sources
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