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Genetic testing for Lynch syndrome in the province of Ontario
Journal article   Open access   Peer reviewed

Genetic testing for Lynch syndrome in the province of Ontario

Marina Wang, Saud Aldubayan, Ashton A Connor, Beatrix Wong, Kate Mcnamara, Tahsin Khan, Kara Semotiuk, Sam Khalouei, Spring Holter, Melyssa Aronson, …
Cancer, Vol.122(11), pp.1672-1679
06/01/2016
DOI: 10.1002/cncr.29950
PMID: 27019099
url
https://doi.org/10.1002/cncr.29950View
Published (Version of record) Open Access

Abstract

In November 2001, genetic testing for Lynch syndrome (LS) was introduced by the Ministry of Health and Long-Term Care (MOH) in Ontario for individuals at high risk for LS cancers according to either tumor immunohistochemistry staining or their family history. This article describes the outcomes of the program and makes recommendations for improving it and informing other public health care programs. Subjects were referred for molecular testing of the mismatch repair (MMR) genes MutL homolog 1, MutS homolog 2, and MutS homolog 6 if they met 1 of 7 MOH criteria. Testing was conducted from January 2001 to March 2015 at the Molecular Diagnostic Laboratory of Mount Sinai Hospital in Toronto. A total of 1452 subjects were tested. Of the 662 subjects referred for testing because their tumor was immunodeficient for 1 or more of the MMR genes, 251 (37.9%) carried a germline mutation. In addition, 597 subjects were tested for a known family mutation, and 298 (49.9%) were positive; 189 of these 298 subjects (63.4%) were affected with cancer at the time of testing. An additional 193 subjects were referred because of a family history of LS, and 34 of these (17.6%) had a mutation identified. These results indicate that the provincial criteria are useful in identifying LS carriers after an MMR-deficient tumor is identified. Placing greater emphasis on testing unaffected relatives in families with a known mutation may identify more unaffected carriers and facilitate primary prevention in those individuals. Cancer 2016;122:1672-9. © 2016 American Cancer Society.
 Adolescent Adult Aged Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Mismatch Repair DNA-Binding Proteins - genetics Family Health Female Genetic Testing - methods Germ-Line Mutation Heterozygote Humans Male Microsatellite Instability Middle Aged MutL Protein Homolog 1 - genetics MutS Homolog 2 Protein - genetics Ontario Program Evaluation Young Adult

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