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A screening strategy for HNPCC [Abstract]

Oakhill, Kim, Whittaker, J., Paterson, J., Arends, M. J. and Frayling, Ian Martin 2003. A screening strategy for HNPCC [Abstract]. Journal of Medical Genetics 40 (Supp.) , S67.

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We are introducing a revised screening strategy for Hereditary Non-Polyposis Colorectal Cancer (HNPCC), to concentrate DNA testing resources more appropriately. Referrals are made through clinical genetics: after confirmation of cases, families are classified into low, medium and high probability of HNPCC, based on Wijnen's regression model. Low probability (<20%) families are not tested, but tumour tissue is sought from the medium and high probability families for immunohistochemistry (IHC) of MLH1, MSH2, and MSH6 (ICGHNPCC standardised protocols), and PMS2 (locally developed protocol). Abnormal IHC results are used to direct mutation testing to the relevant gene. Families with normal IHC results, but a high probability of HNPCC, or families from which turnout blocks are unobtainable also undergo mutation screening. MSH2 and MLH1 exon copy number changes are tested for first using the commercially available HNPCC MLPA kit ( Any single exon changes are confirmed using a second method. MLPA of both genes costs approx, t)10/test, and about 15% of high probability families have MLPA-detectable mutations. Those testing negative for exon copy number changes are then screened for mutations in MSH2 and/or MLH1 (as directed by IHC) using sequencing analysis (approx. 0200/gene). Preliminary data suggest this approach enables significant savings in cost and time in achieving molecular diagnosis in HNPCC, and IHC data facilitates mutation interpretation.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Publisher: BMJ Publishing
ISSN: 0022-2593
Last Modified: 04 Jun 2017 07:56

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