Gene Variant Detail

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Gene MLH1
Variant P578_E632del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions MLH1 P578_E632del results in the deletion of 54 amino acids within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein from aa 578 to aa 632 (UniProt.org). P578_E632del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay and reduced Pms2 interaction as compared to wild-type (PMID: 21120944).
Associated Drug Resistance

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Transcript NM_000249.3
gDNA chr3:g.37047520_37047684del165
cDNA c.1733_1896+1del165
Protein p.P579_E633del55
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.1 chr3:g.37047520_37047684del165 c.1733_1896+1del165 p.E578_E632del55 RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37048561_37049019del459 c.1734_1896+2del459 p.V578_Q632del55 RefSeq GRCh38/hg38
NM_000249 chr3:g.37047520_37047684del165 c.1733_1896+1del165 p.P579_E633del55 RefSeq GRCh38/hg38
XM_005265161 chr3:g.37048561_37049019del459 c.1734_1896+2del459 p.V578_Q632del55 RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37048941_37050573del1633 c.1733_1897del1633 p.L578_P632del55 RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37047520_37047684del165 c.1733_1896+1del165 p.P579_E633del55 RefSeq GRCh38/hg38
NM_001167617 chr3:g.37048941_37050573del1633 c.1733_1897del1633 p.L578_P632del55 RefSeq GRCh38/hg38
NM_001258271 chr3:g.37047520_37047684del165 c.1733_1896+1del165 p.E578_E632del55 RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37047520_37047684del165 c.1733_1896+1del165 p.E578_E632del55 RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37048517_37048975del459 c.1732_1896del459 p.E578_R632del55 RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37047618_37048909del1292 c.1732_1896del1292 p.I578_N632del55 RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37048941_37050573del1633 c.1733_1897del1633 p.L578_P632del55 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MLH1 inact mut colorectal cancer not applicable N/A Preclinical Emerging In a preclinical study, MLH1 inactivation through hypermethylation was associated with high microsatellite instability (MSI-H) colorectal carcinoma by whole genome sequencing of tumor samples (PMID: 22810696), suggesting it may be a potential biomarker. 22810696
MLH1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MLH1 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MLH1 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MLH1 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
MLH1 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MLH1 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
MLH1 P578_E632del loss of function