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Background  Conventional treatment for locally advanced rectal cancer usually combines neoadjuvant radiochemotherapy and surgery. Until recently, there have been limited predictive factors (clinical or biological) for rectal tumor response to conventional treatment.  KRAS ,  BRAF  and  PIK3CA  mutations are commonly found in colon cancers. In this study, we aimed to determine the mutation frequencies of  KRAS ,  BRAF  and  PIK3CA  and to establish whether such mutations may be used as prognostic and/or predictive factors in rectal cancer patients.    Methods  We retrospectively reviewed the clinical and biological data of 98 consecutive operated patients between May 2006 and September 2009. We focused in patients who received surgery in our center after radiochemotherapy and in which tumor samples were available.    Results  In the 98 patients with a rectal cancer, the median follow-up time was 28.3 months (4–74). Eight out of ninety-eight patients experienced a local recurrence (8%) and 17/98 developed distant metastasis (17%).  KRAS, BRAF  and  PIK3CA  were identified respectively in 23 (23.5%), 2 (2%) and 4 (4%) patients. As described in previous studies, mutations in  KRAS  and  BRAF  were mutually exclusive. No patient with local recurrence exhibited  KRAS  or  PIK3CA  mutation and one harbored  BRAF  mutation (12.5%). Of the seventeen patients with distant metastasis (17%), 5 were presenting  KRAS  mutation (29%), one  BRAF  (5%) and one  PIK3CA  mutation (5%). No relationship was seen between  PIK3CA ,  KRAS  or  BRAF  mutation and local or distant recurrences.    Conclusion  The frequencies of  KRAS ,  BRAF  and  PIK3CA  mutations in our study were lower than the average frequencies reported in colorectal cancers and no significant correlation was found between local/distant recurrences and  KRAS ,  BRAF  or  PIK3CA  mutations. Future studies with greater number of patients, longer follow-up time and greater power to predict associations are necessary to fully understand this relationship.

Impact of KRAS, BRAF and PI3KCA mutations in rectal carcinomas treated with neoadjuvant radiochemotherapy and surgery