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MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.

Abstract:

MYH associated polyposis is a hereditary syndrome responsible for early colorectal cancer with a distinct genetic pathway from the Familial Adenomatous Polyposis or the Hereditary Non Polyposis Colorectal Cancer syndrome. We have studied a family with three members bearing a biallelic mutation in MYH at c.1185_1186dup. One patient who developed colon cancer had loss of expression of MLH1 on tumoral tissue and microsatellite instability (MSI) phenotype. Analysis of MLH1 based on his blood samp...

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Publication status:
Published

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Publisher copy:
10.1007/s10689-010-9367-0

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Journal:
Familial cancer More from this journal
Volume:
9
Issue:
4
Pages:
589-594
Publication date:
2010-12-01
DOI:
EISSN:
1573-7292
ISSN:
1389-9600

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