2014
DOI: 10.1200/jco.2013.51.2129
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Tumor 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 Testing

Abstract: Purpose Clinicopathologic data from a population-based endometrial cancer cohort, unselected for age or family history, were analyzed to determine the optimal scheme for identification of patients with germline mismatch repair (MMR) gene mutations. Patients and Methods Endometrial cancers from 702 patients recruited into the Australian National Endometrial Cancer Study (ANECS) were tested for MMR protein expression using immunohistochemistry (IHC) and for MLH1 gene promoter methylation in MLH1-deficient cases.… Show more

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Cited by 199 publications
(249 citation statements)
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“…The SGO criteria released in 2007 are being now inspected. The sensitivity of the SGO 5-10% criteria for MMR gene mutation carrier is reportedly to be 85.7-93% (Ryan et al 2012;Buchanan et al 2014). On the other hand, Bruegl et al (2014a) skeptically reported that the sensitivity of the SGO 5-10% criteria for candidates for genetic testing (probable LS with EC) is 32.6%.…”
Section: Discussionmentioning
confidence: 99%
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“…The SGO criteria released in 2007 are being now inspected. The sensitivity of the SGO 5-10% criteria for MMR gene mutation carrier is reportedly to be 85.7-93% (Ryan et al 2012;Buchanan et al 2014). On the other hand, Bruegl et al (2014a) skeptically reported that the sensitivity of the SGO 5-10% criteria for candidates for genetic testing (probable LS with EC) is 32.6%.…”
Section: Discussionmentioning
confidence: 99%
“…The MSH6 mutation is found more frequently in EC patients than in CRC patients (Hendriks et al 2004). When IHC is performed on the tumors taken from all EC patients, 75-90% of tumors with loss of MLH1 protein expression are sporadic EC with MLH1 gene promoter hypermethylation (Bruegl et al 2014b;Buchanan et al 2014). We performed methylation assays on the 20 tumors with loss of MLH1 alone or MLH1 and PMS2 protein expression.…”
Section: Discussionmentioning
confidence: 99%
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“…Buchanan et al described family histories of Lynch-like syndrome patients with high incidence of metachronous and synchronous CRC and fulfillment of AC (28). On the other hand, Mas-Moya and colleagues identified significant differences between patients with Lynch-like syndrome and those with Lynch syndrome (29).…”
Section: Lynch-like Syndromementioning
confidence: 99%