Publication
Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (43)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 43
- cancerMalignant Colorectal Neoplasmcivic_curation1.00
- cancerMalignant Endometrial Neoplasmcivic_curation1.00
- cancerVillous Adenomacivic_curation1.00
- geneMLH1civic_curation1.00
- geneMSH2civic_curation1.00
- geneMSH6civic_curation1.00
- genePMS2civic_curation1.00
- variantMLH1 *757Lcivic_curation1.00
- variantMLH1 A424Tcivic_curation1.00
- variantMLH1 A681Vcivic_curation1.00
- variantMLH1 c.790+1G>Acivic_curation1.00
- variantMLH1 D667FScivic_curation1.00
- variantMLH1 E13fscivic_curation1.00
- variantMLH1 G606FS*2civic_curation1.00
- variantMLH1 G65Dcivic_curation1.00
- variantMLH1 G67Rcivic_curation1.00
- variantMLH1 I68Scivic_curation1.00
- variantMLH1 K618DELcivic_curation1.00
- variantMLH1 M1Lcivic_curation1.00
- variantMLH1 M490Tcivic_curation1.00
- variantMLH1 N551Tcivic_curation1.00
- variantMLH1 P536FScivic_curation1.00
- variantMLH1 Q149*civic_curation1.00
- variantMLH1 Q426FScivic_curation1.00
- variantMLH1 R100*civic_curation1.00
- variantMLH1 R226*civic_curation1.00
- variantMLH1 R265Gcivic_curation1.00
- variantMLH1 R687FScivic_curation1.00
- variantMLH1 T117Mcivic_curation1.00
- variantMLH1 V213FScivic_curation1.00
- variantMLH1 V49Acivic_curation1.00
- variantMLH1 V534Rcivic_curation1.00
- variantMSH2 E28FScivic_curation1.00
- variantMSH2 E483Gcivic_curation1.00
- variantMSH2 K172*civic_curation1.00
- variantMSH2 R383*civic_curation1.00
- variantMSH2 V273FScivic_curation1.00
- variantMSH6 I891FScivic_curation1.00
- variantMSH6 P138Tcivic_curation1.00
- variantMSH6 R1242Ccivic_curation1.00
- variantMSH6 R1242Hcivic_curation1.00
- variantMSH6 V352Icivic_curation1.00
- variantPMS2 R315*civic_curation1.00
Curated evidence
Evidence citing this paper (38)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 25111426
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| MLH1 A424T1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1816MLH1 A424T (c.1270G>A), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 45 year old male patient (id: sLS-13) with suspected Lynch Syndrome (LS). Th… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 A681V1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1824This variant (A681V), identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 52 year-old male patient with suspected Lynch Syndrome (LS). The patient was th… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 c.790+1G>A1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1794MLH1 c.790+1G > A, identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 61 year old male patient (sLS-2) with suspected Lynch Syndrome (LS). The patient … (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 D667FS1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1810This variant (D667fs), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 68 year old female patient (id: sLS-7) with suspected Lynch Syndrome (LS). Th… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 G65D1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1823This variant (G65D), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 71 year-old male patient (sLS-21) with suspected Lynch Syndrome (LS). The patie… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 G67R1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1821This variant (G67R), identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 61 year-old male patient (sLS-18) with suspected Lynch Syndrome (LS). The patien… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 I68S1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1822MLH1 I68S (c.203 T > G), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 65 year old male patient (id: sLS-20) with suspected Lynch Syndrome (LS). T… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 K618DEL1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1796MLH1 K618del (c.1852_1854del), identified in two cases of microsatellite-unstable colorectal cancer, was confirmed to be somatic in both patients with suspected Lynch Syndrome (LS). Both patients were… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 M1L1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1811MLH1 M1L (c.1A>T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 73 year old female patient (patient id: sLS-8) with suspected Lynch Syndrome (LS)… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 N551T1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1815MLH1 N551T (c.1652A > C) identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 51 year old female patient (id: sLS-12) with suspected Lynch Syndrome (LS). … (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 P138T1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | rejected | EID1797This variant (P138T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be a somatic mutation in a 58 year-old male patient (sLS-23) with suspected Lynch syndrome (LS… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 P536FS1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1820This variant (P536fs), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 59 year-old female patient (sLS-17) with suspected Lynch Syndrome (LS). The p… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 Q149*1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1817MLH1 Q149* (c.445C > T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 65 year old female patient with suspected Lynch Syndrome (LS). The patient … (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 Q426FS1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1807MLH1 Q426fs (c.1276del), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be a somatic mutation in a 46 year old male patient (patient id: sLS-5) with suspected Lync… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 R100*1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1804R100* (c.298C > T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 46 year old female patient with suspected Lynch Syndrome (LS). The patient was t… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 R226*1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1818MLH1 R226* (c.676C > T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 65 year old female patient (sLS-14) with suspected Lynch Syndrome (LS). The… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 R265G1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1813MLH1 R265G (c.793C > G), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 65 year old female patient (id: sLS-10) with suspected Lynch Syndrome (LS).… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 R687FS1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1798MLH1 R687fs (c.2059del), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 33 year old male patient (patient id: sLS-3) with suspected Lynch Syndrome … (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 T117M1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1806MLH1 T117M (c.350C > T), identified in three cases of microsatellite-unstable colorectal cancer, was confirmed to be somatic in patients with suspected Lynch Syndrome (LS). The patients were therefore… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 V213FS1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1814This variant (V213fs), identified in two cases of microsatellite-unstable colorectal cancer, was confirmed to be somatic in both patients (40 year-old female & 70 year-old male) with suspected Lynch S… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 V49A1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1808MLH1 V49A (c.146 T > C), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 68 year old female patient (id: sLS-7) with suspected Lynch Syndrome (LS). … (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 V534R1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1791MLH1 V534R (c.1600_1601delinsAG), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be a somatic variant in a 27 year old male patient (id: sLS-24) with suspected Lyn… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH2 E28FS1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1827This variant (E28fs), identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 66 year-old male patient with suspected Lynch Syndrome (LS). The patient was th… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH2 K172*1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1834MSH2 K172*, identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 66 year old male patient (id: sLS-32) with suspected Lynch Syndrome (LS). The patient wa… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH2 V273FS1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1826This variant (V273fs), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be a somatic mutation in a 61 year-old male patient (sLS-27) with suspected Lynch Syndrome (L… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH6 I891FS1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1829This variant (I891fs), identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 79 year-old male patient with suspected Lynch Syndrome (LS). The patient was t… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH6 I972F1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID1819This variant, identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a patient with suspected Lynch Syndrome (LS). The patient was therefore negative for LS. … (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH6 P138T1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1825This variant, identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a patient with suspected Lynch Syndrome (LS). The patient was therefore negative for LS. PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH6 R1242C1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1840MSH6 R1242C (c.3724C > T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 53 year old male patient with suspected Lynch Syndrome (LS). The patient … (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH6 R1242H1 | ||||||||
| (oncogenic) | Malignant Colorectal NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1831This variant (R1242H), identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 79 year-old male patient (sLS-37) with suspected Lynch Syndrome (LS). The pati… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 E13fs1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1788MLH1 E13fs (c.37del), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 46 year old female patient (sLS-1) with suspected Lynch Syndrome (LS). The pa… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 G606FS*21 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1793MLH1 G606fs*2 (c.1816_1817del), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 46 year old female patient (sLS-1) with suspected Lynch Syndrome (L… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 M490T1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1833This variant (M490T), identified in a case of microsatellite-unstable endometrial cancer was confirmed to be somatic in a 69 year-old female patient with suspected Lynch Syndrome (LS). The patient was… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH2 E483G1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1837MSH2 E483G (c.1448A > G), identified in a case of microsatellite-unstable endometrial cancer was confirmed to be somatic in a 69 year old female patient (sLS-39) with suspected Lynch Syndrome (LS). Th… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH2 R383*1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1790This variant (R383*), identified in two patients, was confirmed to be a somatic mutation in both patients' microsatellite-unstable tumors (39 year-old female with endometrial cancer & 34 year-old fema… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MSH6 V352I1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1839This variant (V352I), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 69 year-old female patient with suspected Lynch Syndrome (LS). The patient wa… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| PMS2 R315*1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1832This variant (R315*), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 69 year-old female patient with suspected Lynch Syndrome (LS). The patient wa… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| MLH1 *757L1 | ||||||||
| (oncogenic) | Villous Adenoma | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1812MLH1 *757 L (c.2270A > T), identified in a case of microsatellite-unstable villous adenoma, was confirmed to be somatic in a 39 year old male patient (id: sLS-9) with suspected Lynch Syndrome (LS). Th… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |