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Genetic testing for Lynch syndrome in the province of Ontario
Author(s) -
Wang Marina,
Aldubayan Saud,
Connor Ashton A.,
Wong Beatrix,
Mcnamara Kate,
Khan Tahsin,
Semotiuk Kara,
Khalouei Sam,
Holter Spring,
Aronson Melyssa,
Cohen Zane,
Gallinger Steve,
Charames George,
Pollett Aaron,
LernerEllis Jordan
Publication year - 2016
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/cncr.29950
Subject(s) - lynch syndrome , genetic testing , medicine , family history , christian ministry , cancer , germline mutation , genetic counseling , dna mismatch repair , oncology , mutation , genetics , gene , biology , colorectal cancer , philosophy , theology
BACKGROUND 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. METHODS 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. RESULTS 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. CONCLUSIONS 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 .