GEN1

Overview

GEN1 is a Holliday junction resolvase involved in homologous recombination DNA repair. In cancer genomics, GEN1 was identified as a single-case mutation in sinonasal adenoid cystic carcinoma with suspected germline origin.

Alterations observed in the corpus

• GEN1 frameshift mutation observed in a single sinonasal adenoid cystic carcinoma case; suspected germline based on allele fraction (not validated against matched normal tissue) PMID:24418857

Cancer types (linked)

• Sinonasal adenoid cystic carcinoma: single-case GEN1 frameshift with suspected germline origin PMID:24418857

Co-occurrence and mutual exclusivity

• Listed among long-tail singleton mutations of uncertain biological significance in sinonasal adenoid cystic carcinoma PMID:24418857

Therapeutic relevance

• No direct therapeutic targeting reported in corpus.

Open questions

• Germline status of GEN1 frameshift was not confirmed against matched normal tissue; somatic vs germline origin remains unresolved PMID:24418857

Sources

• PMID:24418857

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