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PLoS One DOI:10.1371/journal.pone.0074950

Colorectal cancers from distinct ancestral populations show variations in BRAF mutation frequency.

Publication TypeJournal Article
Year of Publication2013
AuthorsHanna, MC, Go, C, Roden, C, Jones, RT, Pochanard, P, Javed, AYasir, Javed, A, Mondal, C, Palescandolo, E, Van Hummelen, P, Hatton, C, Bass, AJ, Chun, SMin, Na, DChae, Kim, T-I, Jang, SJin, Osarogiagbon, RU, Hahn, WC, Meyerson, M, Garraway, LA, MacConaill, LE
JournalPLoS One
Date Published2013
KeywordsAdult, African Continental Ancestry Group, Aged, Aged, 80 and over, Asian Continental Ancestry Group, Colorectal Neoplasms, European Continental Ancestry Group, Female, Genotype, Humans, Male, Middle Aged, Mutation Rate, Proto-Oncogene Proteins B-raf, Young Adult

It has been demonstrated for some cancers that the frequency of somatic oncogenic mutations may vary in ancestral populations. To determine whether key driver alterations might occur at different frequencies in colorectal cancer, we applied a high-throughput genotyping platform (OncoMap) to query 385 mutations across 33 known cancer genes in colorectal cancer DNA from 83 Asian, 149 Black and 195 White patients. We found that Asian patients had fewer canonical oncogenic mutations in the genes tested (60% vs Black 79% (P = 0.011) and White 77% (P = 0.015)), and that BRAF mutations occurred at a higher frequency in White patients (17% vs Asian 4% (P = 0.004) and Black 7% (P = 0.014)). These results suggest that the use of genomic approaches to elucidate the different ancestral determinants harbored by patient populations may help to more precisely and effectively treat colorectal cancer.


Alternate JournalPLoS ONE
PubMed ID24066160
PubMed Central IDPMC3774610