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Genetic variants in germline TP53 and MDM2 SNP309 are not associated with early onset colorectal cancer
Author(s) -
Khan Sajid A.,
Idrees Kamran,
Forslund Ann,
Zeng Zhaoshi,
Rosenberg Shoshana,
Pincas Hanna,
Barany Francis,
Offit Kenneth,
LaQuaglia Michael P.,
Paty Philip B.
Publication year - 2008
Publication title -
journal of surgical oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.201
H-Index - 111
eISSN - 1096-9098
pISSN - 0022-4790
DOI - 10.1002/jso.20996
Subject(s) - germline , germline mutation , medicine , colorectal cancer , age of onset , mdm2 , li–fraumeni syndrome , disease , gene , exon , genetics , cancer , oncology , cancer research , mutation , biology
Background and Objectives Colorectal cancer (CRC) arising in patients under age 30 is a rare disease, and few cases have been reported within Li‐Fraumeni kindreds. To determine how often alterations in the p53 pathway genes contribute to disease susceptibility, we have evaluated patients with early onset CRC for the presence of germline variants in the p53 gene and MDM2 SNP309. Methods Thirty‐five patients with CRC diagnosed before age 30 were included in this study‐based on tissue availability. DNA samples from peripheral blood leukocytes were analyzed for constitutional mutations and polymorphisms in p53 as well as polymorphisms in MDM2 SNP309. Results No mutations were found in exons 4–10 of the p53 gene. The frequencies of polymorphisms in p53 and in MDM2 SNP309 did not differ from rates previously reported for normal control populations, and no polymorphism in either gene could be associated with early onset CRC. Conclusions Neither germline variants in p53 nor MDM2 SNP309 play an underlying role in the development of very early onset CRC. For the large majority of cases, the genetic basis of this disease remains unknown. J. Surg. Oncol. 2008;97:621–625. © 2008 Wiley‐Liss, Inc.