Genetic variants in germline TP53 and MDM2 SNP309 are not associated with early onset colorectal cancer Journal Article
| Authors: | Khan, S. A.; Idrees, K.; Forslund, A.; Zeng, Z.; Rosenberg, S.; Pincas, H.; Barany, F.; Offit, K.; LaQuaglia, M. P.; Paty, P. B. |
| Article Title: | Genetic variants in germline TP53 and MDM2 SNP309 are not associated with early onset colorectal cancer |
| Abstract: | 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. © 2008 Wiley-Liss, Inc. |
| Keywords: | adolescent; adult; clinical article; human tissue; gene mutation; single nucleotide polymorphism; exon; mutation; polymorphism, single nucleotide; patient selection; genetic analysis; colorectal cancer; cancer susceptibility; genetic predisposition to disease; prevalence; genetic variability; genotype; protein p53; colorectal neoplasms; germ line; dna; tumor suppressor protein p53; familial cancer; onset age; age of onset; leukocyte; electrophoresis; p53; protein mdm2; proto-oncogene proteins c-mdm2; snp309; early onset colorectal cancer; genetic syndromes; temporal temperature gradient electrophoresis |
| Journal Title: | Journal of Surgical Oncology |
| Volume: | 97 |
| Issue: | 7 |
| ISSN: | 0022-4790 |
| Publisher: | Wiley Blackwell |
| Date Published: | 2008-06-01 |
| Start Page: | 621 |
| End Page: | 625 |
| Language: | English |
| DOI: | 10.1002/jso.20996 |
| PUBMED: | 18381604 |
| PROVIDER: | scopus |
| PMCID: | PMC4381874 |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 3" - "Export Date: 17 November 2011" - "CODEN: JSONA" - "Source: Scopus" |
Altmetric
Citation Impact
BMJ Impact Analytics
Related MSK Work