Australasian Gastrointestinal Pathology Society (AGPS) consensus guidelines for universal defective mismatch repair testing in colorectal carcinoma

Masato Yozu, M. Priyanthi Kumarasinghe, Ian S. Brown, Anthony J. Gill, Christophe Rosty

Research output: Contribution to journalEditorial

1 Citation (Scopus)

Abstract

Lynch syndrome is the most common hereditary form of colorectal carcinoma caused by a constitutional pathogenic mutation in a DNA mismatch repair gene. Identifying Lynch syndrome is essential to initiate intensive surveillance program for the patient and affected relatives. On behalf of the Australasian Gastrointestinal Pathology Society (AGPS), we present in this manuscript consensus guidelines for Lynch syndrome screening in patients with colorectal carcinoma. The goal of this consensus document is to provide recommendations to pathologists for diagnosis of Lynch syndrome with discussion of the benefits and limitations of each test. Universal screening for defective mismatch repair is recommended, in agreement with the recent endorsement of universal testing by the National Health and Medical Research Council in Australia and the New Zealand Ministry of Health. The value of evaluating defective mismatch repair is acknowledged not only for Lynch syndrome screening but also for therapeutic decision information in patient management. AGPS advocates appropriate government funding for the molecular tests necessary for Lynch syndrome screening (BRAF mutation, MLH1 methylation testing).

Original languageEnglish
Pages (from-to)233-239
Number of pages7
JournalPathology
Volume51
Issue number3
DOIs
Publication statusPublished - Apr 2019

Cite this

Yozu, Masato ; Kumarasinghe, M. Priyanthi ; Brown, Ian S. ; Gill, Anthony J. ; Rosty, Christophe. / Australasian Gastrointestinal Pathology Society (AGPS) consensus guidelines for universal defective mismatch repair testing in colorectal carcinoma. In: Pathology. 2019 ; Vol. 51, No. 3. pp. 233-239.
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abstract = "Lynch syndrome is the most common hereditary form of colorectal carcinoma caused by a constitutional pathogenic mutation in a DNA mismatch repair gene. Identifying Lynch syndrome is essential to initiate intensive surveillance program for the patient and affected relatives. On behalf of the Australasian Gastrointestinal Pathology Society (AGPS), we present in this manuscript consensus guidelines for Lynch syndrome screening in patients with colorectal carcinoma. The goal of this consensus document is to provide recommendations to pathologists for diagnosis of Lynch syndrome with discussion of the benefits and limitations of each test. Universal screening for defective mismatch repair is recommended, in agreement with the recent endorsement of universal testing by the National Health and Medical Research Council in Australia and the New Zealand Ministry of Health. The value of evaluating defective mismatch repair is acknowledged not only for Lynch syndrome screening but also for therapeutic decision information in patient management. AGPS advocates appropriate government funding for the molecular tests necessary for Lynch syndrome screening (BRAF mutation, MLH1 methylation testing).",
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Australasian Gastrointestinal Pathology Society (AGPS) consensus guidelines for universal defective mismatch repair testing in colorectal carcinoma. / Yozu, Masato; Kumarasinghe, M. Priyanthi; Brown, Ian S.; Gill, Anthony J.; Rosty, Christophe.

In: Pathology, Vol. 51, No. 3, 04.2019, p. 233-239.

Research output: Contribution to journalEditorial

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AU - Yozu, Masato

AU - Kumarasinghe, M. Priyanthi

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AU - Rosty, Christophe

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AB - Lynch syndrome is the most common hereditary form of colorectal carcinoma caused by a constitutional pathogenic mutation in a DNA mismatch repair gene. Identifying Lynch syndrome is essential to initiate intensive surveillance program for the patient and affected relatives. On behalf of the Australasian Gastrointestinal Pathology Society (AGPS), we present in this manuscript consensus guidelines for Lynch syndrome screening in patients with colorectal carcinoma. The goal of this consensus document is to provide recommendations to pathologists for diagnosis of Lynch syndrome with discussion of the benefits and limitations of each test. Universal screening for defective mismatch repair is recommended, in agreement with the recent endorsement of universal testing by the National Health and Medical Research Council in Australia and the New Zealand Ministry of Health. The value of evaluating defective mismatch repair is acknowledged not only for Lynch syndrome screening but also for therapeutic decision information in patient management. AGPS advocates appropriate government funding for the molecular tests necessary for Lynch syndrome screening (BRAF mutation, MLH1 methylation testing).

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KW - microsatellite instability

KW - BRAF V600E MUTATION

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KW - COST-EFFECTIVENESS

KW - ENDOMETRIAL CANCER

KW - BRAFV600E IMMUNOHISTOCHEMISTRY

KW - MICROSATELLITE INSTABILITY

KW - GERMLINE MUTATIONS

KW - MLH1 METHYLATION

KW - MANAGEMENT

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