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PMS2 and endometrial cancer are reported together in 2 articles.
Gene
PMS2
- HGNC
- HGNC:9122
19articles
19mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Endometrial cancer
49articles
49mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Muir-Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations.
PMID 37706607 | DOI 10.1002/jso.27440 · Journal of surgical oncology · 2023 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PMS2 | “MMR staining showed preserved expression in MLH1 and PMS2 proteins, while MSH2 and MSH6 staining showed loss of protein expression.” | 0.98 | hgnc_dict_v1 |
| phenotype | endometrial cancer | “MTS increases the risk of developing skin and gastrointestinal tumors such as sebaceous adenomas (SAs), sebaceous carcinomas, colorectal cancer, endometrial cancer, and ovarian cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MLH1 | “MMR staining showed preserved expression in MLH1 and PMS2 proteins, while MSH2 and MSH6 staining showed loss of protein expression.” | 0.98 | hgnc_dict_v1 |
| gene | MSH2 | “MMR staining showed preserved expression in MLH1 and PMS2 proteins, while MSH2 and MSH6 staining showed loss of protein expression.” | 0.98 | hgnc_dict_v1 |
Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing.
PMID 28643016 | DOI 10.1007/s10689-017-0015-9 · Familial cancer · 2018 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PMS2 | “Next generation sequencing, Sanger sequencing and Multiplex Ligation-dependent Probe Amplification were used to screen for germline variants in the MLH1, MSH2, MSH6 and PMS2 MMR genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | endometrial cancer | “All carriers had a positive family history for CRC or endometrial cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MLH1 | “Next generation sequencing, Sanger sequencing and Multiplex Ligation-dependent Probe Amplification were used to screen for germline variants in the MLH1, MSH2, MSH6 and PMS2 MMR genes.” | 0.98 | hgnc_dict_v1 |
| gene | MSH2 | “Next generation sequencing, Sanger sequencing and Multiplex Ligation-dependent Probe Amplification were used to screen for germline variants in the MLH1, MSH2, MSH6 and PMS2 MMR genes.” | 0.98 | hgnc_dict_v1 |