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Long Survival and Severe Toxicity Under 5-Fluorouracil–Based Therapy in a Patient With Colorectal Ca...

Long Survival and Severe Toxicity Under 5-Fluorouracil–Based Therapy in a Patient With Colorectal Ca...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1711537365

Long Survival and Severe Toxicity Under 5-Fluorouracil–Based Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS

About this item

Full title

Long Survival and Severe Toxicity Under 5-Fluorouracil–Based Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS

Publisher

England: Elsevier Inc

Journal title

Mayo Clinic proceedings, 2015-09, Vol.90 (9), p.1298-1303

Language

English

Formats

Publication information

Publisher

England: Elsevier Inc

More information

Scope and Contents

Contents

Abstract We report the first clinical description of a patient with cancer with a heterozygous germline codon-stop mutation in the TYMS gene. The mutation g.657795_657826del, c.53_84del (NM_001071.2), p.Gln18Argfs*42 causes loss of function of one of the TYMS alleles, resulting in a truncated protein. This gene codifies for the target enzyme of 5-f...

Alternative Titles

Full title

Long Survival and Severe Toxicity Under 5-Fluorouracil–Based Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1711537365

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1711537365

Other Identifiers

ISSN

0025-6196

E-ISSN

1942-5546

DOI

10.1016/j.mayocp.2015.05.005

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