Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer

“…There is evidence that MSI and immunohistochemical analysis of the MMR genes are techniques with good sensitivity and specificity for identifying patients with LS. A study carried out in 183 women with endometrial cancer [21] found a concordance of 100% between the two techniques, and Walsh et al [22] reported a similar result (97.5%). In contrast, we found less strong concordance (88.31%).…”

Clinical challenges associated with universal screening for Lynch syndrome associated endometrial cancer

“…Tumors with high levels of microsatellite instability (MSI-H) or immunohistochemical loss of expression of DNA MMR proteins in the absence of MLH1 gene methylation are suggestive of Lynch Syndrome. Many recently published studies have advocated for universal screening of endometrial carcinomas with MSI and/or IHC (4,6,7). The American College of Obstetricians and Gynecologists and the Society of Gynecologic Oncology have recently issued a practice bulletin recommending that universal tissue testing as a rational approach for identifying women at risk for Lynch-associated endometrial cancer (8).…”

Performance characteristics of a brief Family History Questionnaire to screen for Lynch syndrome in women with newly diagnosed endometrial cancer

“…The challenge is the accurate identification of patients with such mutations. Recent studies report that up to 5.9% of unselected cases of endometrial cancer arise in patients with LS [15][16][17]26,27,35,36]. This figure climbs to 9-26% in women diagnosed under the age of 50 [35,37,38].…”