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This summary reviews the association between DNAH12 and gastric adenocarcinoma. The evidence comes from multi‐patient studies reporting altered chemotherapy response in patients whose tumors harbor somatic mutations in members of the DNAH gene family, including DNAH12 (PMID:30944005). Although the study evaluated all 13 DNAH family members, DNAH12 was included and its mutation status contributed to the overall correlation with treatment outcomes.
In the studied cohort of 132 gastric adenocarcinoma patients, tumors with DNAH family mutations (n = 73 PMID:30944005) showed a significantly enhanced response to chemotherapy compared with wild‑type cases (n = 59 PMID:30944005). This clinical evidence supports the potential utility of DNAH12 as a biomarker, although the specific contribution of DNAH12 as an individual gene remains embedded within the collective data from the gene family.
The genetic evidence is based on somatic mutation profiling rather than germline inheritance. No individual germline or isolated DNAH12 variant meeting HGVS criteria was reported; instead, mutations were ascertained from next‑generation sequencing panels that covered a broad spectrum, including missense and truncating alterations, across the DNAH family. Thus, gene‐specific genetic evidence for DNAH12 is derived indirectly from its inclusion among the 13 analyzed genes (PMID:30944005).
The available variant spectrum does not provide a single canonical HGVS string for DNAH12, as the study highlights aggregate somatic mutation frequencies. Therefore, no validated individual coding variant (e.g., a c. change with a corresponding p. change) is available for direct reporting in this context.
Functional assessments in the study have indicated that mutations in DNAH genes may disrupt dynein function, consequently affecting cell motility and chemotherapy response. However, functional studies specific to DNAH12 are limited, with the overall experimental data reflecting a contributory role from the gene family without isolating DNAH12. This leaves room for additional gene‐focused functional validation.
In conclusion, while current clinical and experimental evidence from large-scale genomic analyses supports an association between somatic mutations in the DNAH gene family, including DNAH12, and improved chemotherapy response in gastric adenocarcinoma, the gene‑specific evidence for DNAH12 remains limited. Key take‑home: DNAH12 mutations may serve as a component of a biomarker panel for predicting chemotherapy sensitivity in gastric adenocarcinoma, meriting further dedicated studies.
Gene–Disease AssociationLimitedAlthough the study involving 132 patients (PMID:30944005) demonstrated a significant association between DNAH family mutations and chemotherapy outcomes in gastric adenocarcinoma, data specific to DNAH12 remains embedded within a collective analysis. Genetic EvidenceLimitedGenetic evidence is derived from broad sequencing panels reporting somatic mutations across the DNAH gene family with no single validated DNAH12 variant, limiting the strength of gene‐specific conclusions (PMID:30944005). Functional EvidenceLimitedFunctional assays indicate disruptions in dynein function affecting cell motility and chemotherapy response; however, direct functional validation for DNAH12 is lacking, necessitating further studies. |