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abstract
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.
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