Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical pheno...
Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype
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Publisher
England: BMJ Publishing Group LTD
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Language
English
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Publisher
England: BMJ Publishing Group LTD
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Contents
[...]absence or scarcity of polyps, even at relatively advanced ages (early 50 s) and with a prior CRC diagnosis, can occur in biallelic mutation carriers. [...]the presence of MMR-deficient tumours should not be an exclusion criterion for MUTYH genetic screening. 5 Finally, as previously proposed, somatic KRAS codon 12 analysis might help select p...
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Full title
Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype
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TN_cdi_proquest_miscellaneous_1808720755
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808720755
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ISSN
0017-5749
E-ISSN
1468-3288
DOI
10.1136/gutjnl-2014-307084
