2008
DOI: 10.1002/ijc.23863
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Population‐based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

Abstract: Approximately 1-2% of colorectal cancers (CRC) arise because of germline mutations in DNA mismatch repair genes, referred to as Lynch syndrome. These tumours show microsatellite instability (MSI) and loss of expression of mismatch repair proteins. Presymptomatic identification of mutation carriers has been demonstrated to improve survival; however, there is concern that many are not being identified using current practices. We evaluated population-based MSI screening of CRC in young patients as a means of asce… Show more

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Cited by 68 publications
(96 citation statements)
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“…Our comment, ''that this population-based study has provided evidence that molecular screening and genetic testing all colorectal tumors diagnosed before age 50 years will identify most Lynch syndrome cases'', was based on an Australian study published in the same issue. 3 We agree with de la Chapelle, et al that their research and that of other studies suggest that approximately half of Lynch syndrome cases will be diagnosed with colorectal cancer when older than 50 years. 2 The message of our Editorial, summarized in its title, was that molecular screening of colorectal cancer tumors for mismatch repair loss followed by germline testing of mismatch repair (MMR) genes, when applied to cases of colorectal cancer diagnosed before the age of 50 years, was an efficient method to identify MMR gene mutation carriers.…”
Section: Dear Editorsupporting
confidence: 86%
“…Our comment, ''that this population-based study has provided evidence that molecular screening and genetic testing all colorectal tumors diagnosed before age 50 years will identify most Lynch syndrome cases'', was based on an Australian study published in the same issue. 3 We agree with de la Chapelle, et al that their research and that of other studies suggest that approximately half of Lynch syndrome cases will be diagnosed with colorectal cancer when older than 50 years. 2 The message of our Editorial, summarized in its title, was that molecular screening of colorectal cancer tumors for mismatch repair loss followed by germline testing of mismatch repair (MMR) genes, when applied to cases of colorectal cancer diagnosed before the age of 50 years, was an efficient method to identify MMR gene mutation carriers.…”
Section: Dear Editorsupporting
confidence: 86%
“…Concurrent screening for a hot-spot mutation in the BRAF oncogene (V600E) allowed MSI positive cases showing loss of MLH1 and PMS2 expression by IHC to be excluded from further follow-up as potential LS cases [13,14]. Similar to several previous studies [3,15,16], the frequency of MMR gene mutation carriers amongst all CRC patients in the Western Australian population was estimated to be approximately 1% [12].…”
Section: Introductionmentioning
confidence: 71%
“…This distinctive molecular phenotype is almost always accompanied by the loss of expression of MMR proteins, as revealed by immunohistochemistry (IHC). We previously demonstrated in a large retrospective study that MSI testing was an effective first screen for the identification of individuals with LS in CRC patients aged \60 years [12]. Concurrent screening for a hot-spot mutation in the BRAF oncogene (V600E) allowed MSI positive cases showing loss of MLH1 and PMS2 expression by IHC to be excluded from further follow-up as potential LS cases [13,14].…”
Section: Introductionmentioning
confidence: 98%
“…A recent study proposed that all newly diagnosed patients with CRC younger than 60 years be tested. 43 Second, our model did not adjust for relatives of probands who already know their Lynch syndrome status or already had CRC. Nationally, it is unlikely that many people already know their carrier status because there is no national screening program.…”
Section: Discussionmentioning
confidence: 99%