Review Article

Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review

Table 3

References—MMR studies.

AuthorYearTitleJournalTumor type

Backes2009Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancerGynecologic OncologyEndometrial
Bennett2016Mismatch repair protein expression in clear cell carcinoma of the ovary: incidence and morphologic associations in 109 casesThe American Journal of Surgical PathologyOvarian
Bhosale2017Can reduced field-of-view diffusion sequence help assess microsatellite instability in FIGO stage 1 endometrial cancer?Journal of Magnetic Resonance ImagingEndometrial
Brady2017Sebaceous carcinoma treated with Mohs micrographic surgeryDermatologic SurgerySebaceous
Bregar2017Characterization of immune regulatory molecules b7-h4 and pd-l1 in low and high grade endometrial tumorsGynecologic OncologyEndometrial
Bruegl2014Evaluation of clinical criteria for the identification of Lynch syndrome among unselected patients with endometrial cancerCancer Prevention ResearchEndometrial
Bruegl2017Clinical challenges associated with universal screening for Lynch syndrome-associated endometrial cancerCancer Prevention ResearchEndometrial
Buchanan2014Tumor mismatch repair immunohistochemistry and DNA mlh1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testingJournal of Clinical OncologyEndometrial
Carleton2016A detailed immunohistochemical analysis of a large series of cervical and vaginal gastric-type adenocarcinomasThe American Journal of Surgical pathologyCervical and vaginal
Chen2017Immunohistochemical profiling of endometrial serous carcinomaInternational Journal of Gynecological PathologyEndometrial
Clay2014Risk of secondary malignancy (including breast) in patients with mismatch-repair protein deficiencyThe American Journal of Surgical pathologyEndometrial
Connor2017Association of distinct mutational signatures with correlates of increased immune activity in pancreatic ductal adenocarcinomaJAMA OncologyPancreatic
Djordjevic2013Relationship between PTEN, DNA mismatch repair, and tumor histotype in endometrial carcinoma: retained positive expression of PTEN preferentially identifies sporadic non-endometrioid carcinomasModern PathologyEndometrial
Everett2014Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasmJAMA DermatologySebaceous
Gaskin2011The significance of DNA mismatch repair genes in the diagnosis and management of periocular sebaceous cell carcinoma and Muir-Torre syndromeBritish Journal of OphthalmologySebaceous
Goldberg2017Microcystic, elongated, and fragmented pattern invasion in ovarian endometrioid carcinoma: immunohistochemical profile and prognostic implicationsInternational Journal of Gynecological PathologyOvarian
Grzankowski2012Clinical and pathologic features of young endometrial cancer patients with loss of mismatch repair expressionGynecologic OncologyEndometrial
Joehlin-Price2014Mismatch repair protein expression in 1049 endometrial carcinomas, associations with body mass index, and other clinicopathologic variablesGynecologic OncologyEndometrial
Kato2015DNA mismatch repair-related protein loss as a prognostic factor in endometrial cancersJournal of Gynecologic OncologyEndometrial
Kawazoe2017Clinicopathological features of programmed death ligand 1 expression with tumor-infiltrating lymphocyte, mismatch repair, and Epstein-Barr virus status in a large cohort of gastric cancer patientsGastric CancerGastric
Kobel2017Frequent mismatch repair protein deficiency in mixed endometrioid and clear cell carcinoma of the endometriumInternational Journal of Gynecological PathologyEndometrial
Liau2014Hypermethylation of the cdkn2a gene promoter is a frequent epigenetic change in periocular sebaceous carcinoma and is associated with younger patient ageHuman PathologySebaceous
Liu2014DNA mismatch repair abnormalities in acinar cell carcinoma of the pancreas frequency and clinical significancePancreasPancreatic
Milione2016The clinicopathologic heterogeneity of grade 3 gastroenteropancreatic neuroendocrine neoplasms: morphological differentiation and proliferation identify different prognostic categoriesNeuroendocrinologyGastroenteropancreatic
Moreira2012Identification of Lynch syndrome among patients with colorectal cancerJAMAColorectal
Okoye2016Defective DNA mismatch repair influences expression of endometrial carcinoma biomarkersInternational Journal of Gynecological PathologyEndometrial
Park2016Epstein-Barr virus positivity, not mismatch repair-deficiency, is a favorable risk factor for lymph node metastasis in submucosa-invasive early gastric cancerGastric CancerGastric
Pecorino2017Genetic screening in young women diagnosed with endometrial cancerJournal of Gynecologic OncologyEndometrial
Peterson2012Molecular characterization of endometrial cancer: a correlative study assessing microsatellite instability, mlh1 hypermethylation, DNA mismatch repair protein expression, and pten, pik3ca, kras, and braf mutation analysisInternational Journal of Gynecological PathologyEndometrial
Ramos2017Lymphoepithelioma-like gastric carcinoma: Clinicopathological characteristics and infection statusJournal of surgical ResearchGastric
Ring2013Women 50 years or younger with endometrial cancer the argument for universal mismatch repair screening and potential for targeted therapeuticsInternational Journal of Gynecological CancerEndometrial
Roberts2013Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasmsJournal of Genetic CounselingSebaceous
Rosa-Rosa2016Molecular genetic heterogeneity in undifferentiated endometrial carcinomasModern PathologyEndometrial
Ruiz2014Lack of association between deficient mismatch repair expression and outcome in endometrial carcinomas of the endometrioid typeGynecologic OncologyEndometrial
Sahnane2015Microsatellite unstable gastrointestinal neuroendocrine carcinomas: a new clinicopathologic entityEndocrine-Related CancerGastroenteropancreatic
Shih2011Clinicopathologic significance of DNA mismatch repair protein defects and endometrial cancer in women 40 years of age and youngerGynecologic OncologyEndometrial
Steinestel2014Invasion pattern and histologic features of tumor aggressiveness correlate with MMR protein expression, but are independent of activating kras and braf mutations in CRCVirchows ArchivColorectal
Talhouk2016Molecular classification of endometrial carcinoma on diagnostic specimens is highly concordant with final hysterectomy: earlier prognostic information to guide treatmentGynecologic OncologyEndometrial
Talhouk2015A clinically applicable molecular-based classification for endometrial cancersBritish Journal of CancerEndometrial
Talhouk2017Confirmation of ProMisE: a simple, genomics-based clinical classifier for endometrial cancerCancerEndometrial
Therkildsen2015Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndromeEuropean Journal of NeurologyBrain
Thoury2014Evidence for different expression profiles for c-Met, EGFR, PTEN and the mTOR pathway in low and high grade endometrial carcinomas in a cohort of consecutive women. Occurrence of pik3ca and k-ras mutations and microsatellite instabilityHistology and HistopathologyEndometrial
Vierkoetter2014Lynch syndrome in patients with clear cell and endometrioid cancers of the ovaryGynecologic OncologyOvarian
Vierkoetter2016Loss of mismatch repair protein expression in unselected endometrial adenocarcinoma precursor lesionsInternational Journal of Gynecological CancerEndometrial
Watkins2016Universal screening for mismatch-repair deficiency in endometrial cancers to identify patients with Lynch syndrome and Lynch-like syndromeInternational Journal of Gynecological PathologyEndometrial
Wiegand2014Arid1a/baf250a as a prognostic marker for gastric carcinoma: a study of 2 cohortsHuman PathologyGastric
Woo2014The immunohistochemistry signature of mismatch repair (MMR) proteins in a multiethnic Asian cohort with endometrial carcinomaInternational Journal of Gynecological PathologyEndometrial
Zakhour2017Abnormal mismatch repair and other clinicopathologic predictors of poor response to progestin treatment in young women with endometrial complex atypical hyperplasia and well-differentiated endometrial adenocarcinoma: a consecutive case seriesBJOG: An International Journal of Obstetrics and GynecologyEndometrial