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Interpretation 162
Tier 3
MLH1
Variants
MLH1 V384D
Primary Sites
Lung
Colon
Rectum
Tumor Types
Adenocarcinoma
Carcinoma
Interpretation

The MLH1 V384D polymorphism has been associated with cancer risk in some tumor types. In addition, according to one report, MLH1 V384D polymorphism has been reported to be associated with primary resistance to EGFR-TKIs in patients with EGFR L858R-positive lung adenocarcinoma and may potentially be a novel biomarker to guide treatment decisions for those patients. The effect of this MLH1 polymorphism when present with other EGFR-TKI sensitizing mutations such as Exon 19 deletions in EGFR remains to be clarified. Some studies have shown that patients carrying the MLH1 V384D variant have an increased risk of the development of microsatellite-instable as well as -stable colorectal cancer. This variant has an allele frequency of 4% in the East Asian population. Of note, this variant is reported as a benign germline variant in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/41632/). Clinical correlation is recommended.

Citations
  1. Chiu CH, et al. MLH1 V384D polymorphism associates with poor response to EGFR tyrosine kinase inhibitors in patients with EGFR L858R-positive lung adenocarcinoma. Oncotarget 2015;6(10):8407-17
  2. Ohsawa T, et al. Colorectal cancer susceptibility associated with the hMLH1 V384D variant. Mol Med Rep 2009;2(6):887-91
  3. ClinVar MLH1: https://www.ncbi.nlm.nih.gov/clinvar/variation/41632/
Last updated: 2018-05-09 21:13:25 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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