Evaluation of clinical criteria for the identification of Lynch syndrome among unselected patients with endometrial cancer

Amanda S. Bruegl, Bojana Djordjevic, Brittany Batte, Molly Daniels, Bryan Fellman, Diana Urbauer, Rajyalakshmi Luthra, Charlotte Sun, Karen H. Lu, Russell R. Broaddus

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Clinical criteria, primarily young age of cancer onset and family history of signature cancers, have been developed to identify individuals at elevated risk for Lynch syndrome with the goals of early identification and cancer prevention. In 2007, the Society of Gynecologic Oncology (SGO)-codified criteria for women presenting with gynecologic cancers. These criteria have not been validated in a population-based setting. For 412 unselected endometrial cancers, immunohistochemical expression of DNA mismatch repair proteins and MLH1 methylation were assessed to classify tumors as sporadic or probable Lynch syndrome (PLS). In this cohort, 10.5% of patients were designated as PLS based on tumor testing. The sensitivity and specificity of the SGO criteria to identify these same cases were 32.6% [95% confidence interval (CI), 19.2- 48.5] and 77% (95% CI, 72.7-81.8), respectively. With the exception of tumor location in the lower uterine segment, multivariate analysis of clinical features, family history, and pathologic variables failed to identify significant differences between the sporadic and PLS groups. A simplified cost-effectiveness analysis demonstrated that the SGO clinical criteria and universal tissue testing strategies had comparable costs per patient with PLS identified. In conclusion, theSGOcriteria successfully identify PLS cases amongwomen with endometrial cancer who are young or have significant family history of signature tumors. However, a larger proportion of patients with PLS who are older and have less significant family history are not detected by this screening strategy. Universal tissue testing may be necessary to capture more individuals at risk for having Lynch syndrome.

Original languageEnglish (US)
Pages (from-to)686-697
Number of pages12
JournalCancer Prevention Research
Issue number7
StatePublished - Jul 2014
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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