Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

L. Schofield; Natasha Watson; F. Grieu; W.Q. Li; Nikolajs Zeps; Jennet Harvey; C. Stewart; M. Abdo; Jack Goldblatt; Barry Iacopetta

doi:10.1002/ijc.23863

Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

L. Schofield, Natasha Watson, F. Grieu, W.Q. Li, Nikolajs Zeps, Jennet Harvey, C. Stewart, M. Abdo, Jack Goldblatt, Barry Iacopetta

Research output: Contribution to journal › Article › peer-review

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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. Pre-symptomatic 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 ascertaining mutation carriers. CRC diagnosed in patients aged

Original language	English
Pages (from-to)	1097-1102
Journal	International Journal of Cancer
Volume	124
Issue number	5
DOIs	https://doi.org/10.1002/ijc.23863
Publication status	Published - 2009

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10.1002/ijc.23863

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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. Pre-symptomatic 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 ascertaining mutation carriers. CRC diagnosed in patients aged",

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AU - Schofield, L.

AU - Watson, Natasha

AU - Grieu, F.

AU - Li, W.Q.

AU - Zeps, Nikolajs

AU - Harvey, Jennet

AU - Stewart, C.

AU - Abdo, M.

AU - Goldblatt, Jack

AU - Iacopetta, Barry

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AB - 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. Pre-symptomatic 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 ascertaining mutation carriers. CRC diagnosed in patients aged

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Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

Abstract

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