MSH2 A913fs
Gene Variant Detail

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Gene MSH2
Variant A913fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions MSH2 A913fs results in a change in the amino acid sequence of the Msh2 protein beginning at aa 913 of 934, likely resulting in premature truncation of the functional protein (UniProt.org). A913fs is associated with loss of Msh2 expression in patient samples (PMID: 26674132), but has not been fully biochemically characterized and therefore, its effect on Msh2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH2 mutant MSH2 A913fs

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Transcript NM_000251.3
gDNA chr2:g.(47482880_47482881)
cDNA c.(2737_2736)
Protein p.A913fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000251.3 chr2:g.(47482880_47482881) c.(2737_2736) p.A913fs RefSeq GRCh38/hg38
NM_001406641.1 chr2:g.(47482880_47482881) c.(2737_2736) p.A913fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MSH2 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH2 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...
MSH2 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org). detail...
MSH2 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MSH2 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MSH2 mutant adrenocortical carcinoma 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 adrenocortical carcinoma (NCCN.org). detail...
MSH2 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...
MSH2 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...