Gene Information
PMS1 homolog 2, mismatch repair system component [Source:HGNC Symbol;Acc:HGNC:9122]
PMS2 variants are associated with 2 diseases including Lynch syndrome and mismatch repair cancer syndrome, with 13 documented clinical phenotypes.
The PMS2 gene is associated with 2 medical conditions, including:
Research has identified 13 phenotypic features associated with PMS2 variants:
Autosomal dominant inheritance
HP:0000006
Autosomal recessive inheritance
HP:0000007
Colon cancer
HP:0003003
Adenomatous colonic polyposis
HP:0005227
Non-Hodgkin lymphoma
HP:0012539
Glioblastoma multiforme
HP:0012174
Agenesis of corpus callosum
HP:0001274
Astrocytoma
HP:0009592
Endometrial carcinoma
HP:0012114
Ovarian neoplasm
HP:0100615
Multiple cafe-au-lait spots
HP:0007565
Hereditary nonpolyposis colorectal carcinoma
HP:0006716
Gray matter heterotopia
HP:0002282
ClinVar contains 10 variants associated with PMS2. Below are some notable variants:
NC_000007.13:g.(?_6010555)_(6045663_6048627)del
PathogenicVCV004525971
Review: criteria provided, single submitter
NM_000535.7(PMS2):c.1983_1984insCAAA (p.Asp662fs)
PathogenicVCV004294258
Review: criteria provided, single submitter
NM_000535.7(PMS2):c.1333_1355dup (p.Gly452_Met453insAlaLeuTer)
PathogenicVCV004294222
Review: criteria provided, single submitter
NM_000535.7(PMS2):c.250+1G>T
Likely pathogenicVCV004294205
Review: criteria provided, single submitter
NM_000535.7(PMS2):c.*110del
Likely benignVCV004280720
Review: criteria provided, single submitter
There are 1,288 publications about PMS2 indexed in PubMed. Below are some recent papers:
Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.
Mizukami K, Usui Y, Iwasaki Y
PMID: 41258140
•
2025 Nov 13
•
Commun Med (Lond)
Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients.
Naeemi H, Muhammad N, Loya A
PMID: 41257893
•
2025 Nov 19
•
Hered Cancer Clin Pract
The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.
Podgrajsek R, Hodzic A, Maver A
PMID: 41257861
•
2025 Nov 19
•
Reprod Biol Endocrinol
AXINEO: AXIllary response to NEOadjuvant chemotherapy for breast cancer: can we predict response based on a biomarker panel?
Fick F, Lenz F, Sailer VW
PMID: 41251718
•
2025 Nov 18
•
Arch Gynecol Obstet
Universal Screening for Lynch Syndrome and molecular classification of patients with endometrial cancer.
Yan G, Zhang P, Cao Y
PMID: 41247883
•
2025 Nov 14
•
Int J Surg
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Trusted Data Sources
Last updated: 11/20/2025