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000285997 1001_ $$aHelderman, Noah C$$b0
000285997 245__ $$aMLH1 promotor hypermethylation in colorectal and endometrial carcinomas from patients with Lynch syndrome.
000285997 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2024
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000285997 520__ $$aScreening for Lynch syndrome (LS) in colorectal cancer (CRC) and endometrial cancer (EC) patients generally involves immunohistochemical staining of the mismatch repair (MMR) proteins. In case of MLH1 protein loss, MLH1 promotor hypermethylation (MLH1-PM) testing is performed to indirectly distinguish constitutional MLH1 variants from somatic epimutations. However, in recent years a growing number of studies have reported that MLH1-PM and pathogenic constitutional MMR variants are not mutually exclusive. This study describes six new and 86 previously reported MLH1-PM CRCs or ECs in LS patients. Of these, methylation of the MLH1 gene promotor 'C region' was reported in 30 MLH1, six MSH2, six MSH6 and three PMS2 variant carriers at median ages at diagnosis of 48.5 (IQR 39-56.75), 39 (IQR 29-51), 58 (IQR 53.5-67) and 68 (IQR 65.6-68.5) years, respectively. For 31 MLH1-PM CRCs in LS patients from literature, only the 'B region' of the MLH1 gene promotor was tested, whereas for 13 literature cases the tested MLH1 gene promotor region was not specified. Collectively, these data indicate that a diagnosis of LS should not be excluded when MLH1-PM is detected. Clinicians should carefully consider whether or not follow-up genetic MMR gene testing should be offered, with age < 60-70 years and/or a positive family history amongst other factors being suggestive for a potential constitutional MMR gene defect.
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000285997 650_7 $$2Other$$aLynch syndrome
000285997 650_7 $$2Other$$aMLH1 promotor hypermethylation
000285997 650_7 $$2Other$$acolorectal cancer
000285997 650_7 $$2Other$$aendometrial cancer
000285997 650_7 $$2Other$$agenetic testing
000285997 650_7 $$2Other$$aimmunohistochemistry
000285997 650_7 $$2Other$$amismatch repair
000285997 650_7 $$2Other$$ascreening
000285997 7001_ $$aAndini, Katarina D$$b1
000285997 7001_ $$avan Leerdam, Monique E$$b2
000285997 7001_ $$avan Hest, Liselotte P$$b3
000285997 7001_ $$aHoekman, Daniël R$$b4
000285997 7001_ $$0P:(DE-He78)07eef6d38a91f4642c810745c5bf5000$$aAhadova, Aysel$$b5$$udkfz
000285997 7001_ $$aBajwa-Ten Broeke, Sanne W$$b6
000285997 7001_ $$aBosse, Tjalling$$b7
000285997 7001_ $$avan der Logt, Elise M J$$b8
000285997 7001_ $$aImhann, Floris$$b9
000285997 7001_ $$0P:(DE-He78)028ee60cca729028708496826f077b58$$aKloor, Matthias$$b10$$udkfz
000285997 7001_ $$aLangers, Alexandra M J$$b11
000285997 7001_ $$aSmit, Vincent T H B M$$b12
000285997 7001_ $$aTerlouw, Diantha$$b13
000285997 7001_ $$avan Wezel, Tom$$b14
000285997 7001_ $$aMorreau, Hans$$b15
000285997 7001_ $$aNielsen, Maartje$$b16
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