Prevalence of BRAF gene mutation in Thai sporadic colorectal cancer patients.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e14051-e14051
Author(s):  
Krittiya Korphaisarn ◽  
Ekkapong Roothumnong ◽  
Akarin Nimmannit ◽  
Chanin Limwongse ◽  
Ananya Manuyakorn ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Gene Mutation ◽  
Braf Mutation ◽  
Prognostic Value ◽  
Braf V600e Mutation ◽  
Stage I ◽  
Braf V600e ◽  
Braf Gene ◽  
Primary Tumors ◽  
Caucasian Patients

e14051 Background: The role of BRAF gene mutation has been studied for its association with prognosis of colorectal cancer (CRC). The prevalence was reported 10-15% in Caucasian patients. However, there is no existing data in Thai patients. This study aimed to determine the prevalence of BRAF V600E mutation, association with various clinicopathological features and outcome in Thai sporadic CRC patients. Methods: DNA was extracted from randomly selected formalin-fixed paraffin-embedded tumor blocks of CRC patients with stage I-IV receiving surgery of the primary tumors at Siriraj Hospital between 2006 and 2007. BRAF V600E mutation was performed by two-round allele-specific PCR and analysis using high sensitivity DHPLC. The association between patient characteristics and BRAF status with overall survival (OS) and disease free survival (DFS) were explored by Kaplan-Meier estimation and log-rank test together with Cox’s proportional hazard regression. Results: BRAF V600E mutation was identified in 7 out of 188 patients (3.7%). Four patients were female. There were more likely to found in tumors on the left side (n=4) compared with right side (n=2) and rectum (n=1). All patients with mutation had stage I-III diseases; one with stage I and 3 with stage II and III each. Four had moderately differentiated tumors. Six patients had neither lymphovascular nor perineural invasion. Patients with mutation seemed to have better survival. In multivariate analysis, BRAF mutation did not have major prognostic value regarding DFS or OS. Conclusions: The prevalence of BRAF V600E mutation in Thai sporadic CRC was 3.7% which was lower than what reported in Caucasian patients. Further study with larger number of patients is warranted to determine whether BRAF mutation has significant prognostic value.

Prognostic value of RAS, BRAF, and PIK3CA mutations in early-stage colorectal cancer.

2015 ◽  
Vol 33 (3_suppl) ◽  
pp. 594-594
Author(s):  
Jennifer Elizabeth Byer ◽  
Nishi Kothari ◽  
TzuHua Juan ◽  
Jamie K. Teer ◽  
Michael J. Schell ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Survival Data ◽  
Braf Mutation ◽  
Prognostic Value ◽  
Early Stage ◽  
Stage I ◽  
Braf V600e ◽  
Pik3ca Mutations ◽  
1000 Genomes ◽  
Braf Mutant

594 Background: Activating mutations in the KRAS, BRAF and PIK3CA oncogenes deregulate growth-factor pathways and promote metastasis in colorectal cancer (CRC). The prognostic value of these mutations has been reported with conflicting results in early CRC. We evaluated RAS, BRAF, and PIK3CA mutations as prognostic biomarkers in early stage (stage I-III) colorectal cancer (CRC) patients. Methods: Tumor samples collected from 302 early stage CRC patients diagnosed between 1998 and 2010 were analyzed as part of a multi-institutional observational study. Targeted exome sequencing was performed using the Illumina NGS platform with 50-100X coverage of mutations. The BWA/GATK pipeline was used to identify variants and indels. Matched normal samples were not available for comparison to identify somatic mutations, therefore 1000 Genomes was used to filter normal variants. Variants identified in 1000 Genomes with an MAF <0.01 were filtered. Overall survival data was collected via retrospective chart review. Extended RAS, BRAF V600E, and PIK3CA (exon 9 and 20) mutations were evaluated. The log-rank test was used to compare survival distributions. Results: 302 patients were eligible for analysis (53 stage I, 125 stage II, 124 stage III). 109 patients had RAS mutations (KRAS or NRAS), 41 patients had BRAF mutations, and 29 patients had PIK3CA mutations. Of the 247 patients with microsatellite stability (MSS) 98 were RAS mutant, 10 were BRAF mutant, and 19 were PIK3CA mutant. Of the 55 patients with microsatellite instability high (MSI-H) 11 were RAS mutant, 31 were BRAF mutant, and 10 were PIK3CA mutant. BRAF mutation was prognostic for decreased OS (p= 0.0245), particularly in patients with MSS tumors (p=0.0141). RAS and PIK3CA mutations did not have prognostic value for OS (p =0.72 and 0.23 respectively). Conclusions: In early stage colorectal cancer, we confirmed BRAF mutation is prognostic for OS particularly in MSS patients. RAS and PIK3CA mutations did not confer prognostic value.

Impact of KRAS, BRAF, and PIK3CA mutations, PTEN, AREG, and EREG expression, and skin rash in metastatic colorectal cancer patients treated with cetuximab-containing salvage treatment.

2011 ◽  
Vol 29 (4_suppl) ◽  
pp. 445-445
Author(s):  
Z. Saridaki ◽  
M. Tzardi ◽  
C. Papadaki ◽  
M. Sfakianaki ◽  
F. Pega ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Prognostic Factors ◽  
Metastatic Colorectal Cancer ◽  
Mrna Expression ◽  
Skin Rash ◽  
Braf Mutation ◽  
Braf V600e ◽  
Primary Tumors ◽  
Exon 2 ◽  
Pik3ca Mutations

445 Background: To investigate the predictive significance of KRAS exon 2, BRAF V600E, PIK3CA exon 9 and 20 mutational status, AREG- EREG mRNA expression, PTEN protein expression and skin rash in patients with metastatic colorectal cancer (mCRC) treated with cetuximab containing salvage chemotherapy. Methods: Primary tumors from 112 mCRC patients were analyzed. The worst skin toxicity during treatment was recorded. Results: KRAS, BRAF and PIK3CA mutations were present in 37 (33%), 8 (7.2%) and 11 (9.8%) cases, respectively, PTEN was lost in 21 (19.8%) cases, AREG and EREG were overexpressed in 48 (45%) and 51 (49%) cases. In the whole study population, time to tumor progression (TTP) and overall survival (OS) was significantly lower in patients with KRAS (p=0.001 and p=0.026, respectively) or BRAF (p=0.001 and p<0.0001, respectively) mutant tumors, downregulation of AREG (p=0.018 and p=0.013, respectively) or EREG (p=0.002 and p=0.004, respectively) and in those with grade 0-1 skin rash (p<0.0001 and p<0.0001, respectively). In KRAS wt patients TTP and OS was significantly lower in patients with BRAF (p=0.0001 and p<0.0001, respectively) mutant tumors, downregulation of AREG (p=0.021 and p=0.004, respectively) or EREG (p=0.0001 and p<0.0001, respectively) and grade 0-1 skin rash (p<0.0001 and p<0.0001, respectively). TTP was significantly lower in patients with PIK3CA mutations (p=0.01) or lost PTEN (p=0.002). Multivariate analysis revealed KRAS (hazard ratio [HR] 4.3, p<0.0001), BRAF mutation (HR: 5.1, p<0.0001), EREG low mRNA expression (HR: 1.6, p=0.021) and absence of severe/moderate skin rash (HR: 4.0, p<0.0001) as independent prognostic factors for decreased TTP. Similarly, KRAS (HR 2.9, p=0.01), BRAF mutation (HR: 3.0, p=0.001), EREG low mRNA expression (HR: 1.7, p=0.021), absecence of severe/moderate skin rash (HR: 3.7, p<0.0001) and the presence of undifferantited tumours (HR: 2.2, p=0.001) were revealed as independent prognostic factors for decreased OS. Conclusions: These results underscore the potential of advanced CRCs genetic profiling in order to identify patients with different treatment response. No significant financial relationships to disclose.

scholarly journals Association Between BRAF V600E Mutation and Recurrence of Papillary Thyroid Cancer

2015 ◽  
Vol 33 (1) ◽  
pp. 42-50 ◽  
Author(s):  
Mingzhao Xing ◽  
Ali S. Alzahrani ◽  
Kathryn A. Carson ◽  
Young Kee Shong ◽  
Tae Yong Kim ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Multicenter Study ◽  
Braf Mutation ◽  
Prognostic Value ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Disease Stage ◽  
Papillary Thyroid ◽  
Recurrence Rates

Purpose To investigate the prognostic value of BRAF V600E mutation for the recurrence of papillary thyroid cancer (PTC). Patients and Methods This was a retrospective multicenter study of the relationship between BRAF V600E mutation and recurrence of PTC in 2,099 patients (1,615 women and 484 men), with a median age of 45 years (interquartile range [IQR], 34 to 58 years) and a median follow-up time of 36 months (IQR, 14 to 75 months). Results The overall BRAF V600E mutation prevalence was 48.5% (1,017 of 2,099). PTC recurrence occurred in 20.9% (213 of 1,017) of BRAF V600E mutation–positive and 11.6% (125 of 1,082) of BRAF V600E mutation–negative patients. Recurrence rates were 47.71 (95% CI, 41.72 to 54.57) versus 26.03 (95% CI, 21.85 to 31.02) per 1,000 person-years in BRAF mutation–positive versus –negative patients (P < .001), with a hazard ratio (HR) of 1.82 (95% CI, 1.46 to 2.28), which remained significant in a multivariable model adjusting for patient sex and age at diagnosis, medical center, and various conventional pathologic factors. Significant association between BRAF mutation and PTC recurrence was also found in patients with conventionally low-risk disease stage I or II and micro-PTC and within various subtypes of PTC. For example, in BRAF mutation–positive versus –negative follicular-variant PTC, recurrence occurred in 21.3% (19 of 89) and 7.0% (24 of 342) of patients, respectively, with recurrence rates of 53.84 (95% CI, 34.34 to 84.40) versus 19.47 (95% CI, 13.05 to 29.04) per 1,000 person-years (P < .001) and an HR of 3.20 (95% CI, 1.46 to 7.02) after adjustment for clinicopathologic factors. BRAF mutation was associated with poorer recurrence-free probability in Kaplan-Meier survival analyses in various clinicopathologic categories. Conclusion This large multicenter study demonstrates an independent prognostic value of BRAF V600E mutation for PTC recurrence in various clinicopathologic categories.

Mutation profiling of BRAF gene in Chinese patients with early or advanced colorectal cancer using comprehensive NGS panel.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e15124-e15124
Author(s):  
Canfeng Lin ◽  
Wanqiu Jia ◽  
Wang Sheng ◽  
Lijiao Zhang ◽  
Feiran Zhang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Gene Mutation ◽  
Braf Mutation ◽  
Advanced Colorectal Cancer ◽  
Early Stage ◽  
Chinese Patients ◽  
Advanced Stage ◽  
Braf Gene ◽  
Braf Mutations ◽  
Mutation Profiling

e15124 Background: It has been reported that BRAF gene mutation occurs in approximately 10% of metastatic colorectal cancer (mCRC), and is associated with resistance to EGFR inhibitors. Moreover, patients with non-V600E BRAF mutations with a better prognosis than patients with V600E BRAF mutations in advanced colorectal cancer. However, little is known about mutation profiling of BRAF in early stage colorectal cancer. Methods: We reviewed mutation profiling of 1429 colorectal cancer samples in our institute from 2016 to 2018. Tissue biopsy and/or ctDNA samples were analyzed using hybridization capture-based NGS ER-Seq method, which enables simultaneously assess single-nucleotide variants, insertions/deletions, rearrangements, and somatic copy-number alterations at least 59 genes (range 59-1021 genes). Results: A total of 1429 samples from 1120 patients with CRC, included 86 early stage (Ⅰ-Ⅱ ), 966 advanced stage (Ⅲ -Ⅳ), and 377 samples with unknown stage. We identified 109 samples from 94 patients with BRAF gene mutation in the cohort (109/1429=7.63%), of which V600E and non-V600E were 62(4.34%) and 47 (3.29%), respectively. Among the 109 samples, there were 15 of early stage, 84 of advanced stage and 10 of unknown stages. BRAF mutation were more common in early CRC samples (15/86=17.44%) than in advanced CRC samples (84/966=8.7%, p = 0.007). Furthermore, 10 of the 15 early CRC samples yet 32 of the 84 mCRC samples had non-V600E were detected (66.67% vs 38.1%, p=0.039). In contrast to V600E mutation, some of the non-V600E variants were variants of unknown clinical significance (VUS) in this study (see Table). Conclusions: BRAF mutation is more common in early stage CRC, the higher prevalence of non-V600E BRAF mutations in early CRC may account for the better prognosis of early stage CRC. non-V600E BRAF mutation subtype. [Table: see text]

scholarly journals Frequency of BRAF V600E Mutation in the Mexican Population of Patients With Metastatic Melanoma

2018 ◽  
pp. 1-5
Author(s):  
Erika Ruiz-Garcia ◽  
Juan A. Matus-Santos ◽  
Jorge Alberto Guadarrama-Orozco ◽  
Miguel Angel Alvarez-Avitia ◽  
Jose Luis Aguilar-Ponce ◽  
...  
Keyword(s):  
Metastatic Melanoma ◽  
Braf Mutation ◽  
Large Scale ◽  
Braf V600e Mutation ◽  
Mexican Population ◽  
Braf V600e ◽  
Braf Gene ◽  
Braf Mutations ◽  
Nodular Melanoma ◽  
Pathologic Features

Purpose The BRAF V600E mutation has been described in melanomas occurring in the Caucasian, European, and Asian populations. However, in the Mexican population, the status and clinical significance of BRAF mutation has not been researched on a large scale. Methods Consecutive BRAF-tested Mexican patients with metastatic melanoma (n = 127) were analyzed for mutations in exon 15 of the BRAF gene in genomic DNA by real-time polymerase chain reaction technology for amplification and detection. The results were correlated with the clinical-pathologic features and the prognosis of the patients. Results The frequency of somatic mutation V600E within the BRAF gene was 54.6% (43 of 127 patients). Nodular melanoma was the most prevalent subtype in our population, with BRAF mutations in 37.2% (16 of 55 patients). In contrast, superficial spread had a frequency of 18.6% BRAF mutation (eight of 24). Other clinicopathologic features were assessed to correlate with the mutation status. Conclusion This study searched for the most prevalent BRAF V600E mutation type in melanoma in a heterogeneous population from Mexico. Nodular melanoma was found to be the most prevalent in metastatic presentation and the presence of BRAF V600E mutation, perhaps related to the mixed ancestry; in the north, ancestry is predominantly European and in the south, it is predominantly Asian. The outcomes of the mutation correlations were similar to those found in other populations.

scholarly journals Mutación BRAF V600E en pacientes con cáncer de tiroides. Fundación Clínica Valle del Lili: una serie de casos

2017 ◽  
Vol 3 (3) ◽  
pp. 45-49
Author(s):  
Guillermo Edinson Guzmán ◽  
Luz Ángela Casas ◽  
Julian David Orrego Celestino ◽  
Juliana Escobar ◽  
Lisa Rodríguez ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Gene Mutation ◽  
Medical Records ◽  
Vascular Invasion ◽  
Lymphatic Invasion ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Nodal Involvement ◽  
Extrathyroid Extension ◽  
Braf Gene

Objetivo: Describir las características clínicas y los hallazgos histopatológicos de los pacientes con diagnóstico de cáncer de tiroides y estudio de la mutación del Gen BRAF V600E.Métodos: Estudio descriptivo, retrospectivo, con información obtenida de las historias clínicas de los pacientes con diagnóstico de cáncer de tiroides atendidos durante 2014 y 2105 en la Fundación Clínica Valle del Lili con estudio para la mutación del gen BRAF V600E.Resultados: De los 344 pacientes con diagnóstico de cáncer de tiroides durante los años 2014 y 2015, se les realizó estudio de la mutación BRAF V600E a 24. La edad promedio fue de 47 años, con predominio en mujeres (87,5%), fueron positivos para la mutación 66% de los pacientes. En relación a las características histopatológicas, el 95,8% de los casos correspondían a cáncer papilar de tiroides, la mayoría de la variedad clásica. Los pacientes con la mutación BRAF V600E tenían mayor extensión extratiroidea, invasión linfática, invasión vascular y compromiso ganglionar, pero no se encontró relación con respecto a tamaño tumoral, multicentralidad, bilateralidad, tiroiditis de Hashimoto o presencia de metástasis.Conclusión: Este es el primer estudio en Colombia, que describe las características clínicas e histopatológicas de los pacientes con cáncer de tiroides en relación a la presencia de la mutacion del Gen BRAF.Abstract Objective: To describe the clinical and histopathological findings of patients diagnosed with thyroid cancer and BRAF V600E gene mutation study. Methods: A descriptive, retrospective study, with information obtained from the medical records of patients diagnosed with thyroid cancer seen during 2014 and 2105 in the Fundacion Clínica Valle del Lili with analysis of the BRAF V600E gene mutation. Results: Of the 344 patients diagnosed with thyroid cancer during the years 2014 and 2015, underwent study of the BRAF V600E to 24. The average age was 47 years, with prevalence in women (87.5%) were positive for mutation 66% of patients. Regarding the histopathologic features, 95.8% of the cases werepapillary thyroid cancer, most classic variety. Patients with BRAF V600E mutation were more extrathyroid extension, lymphatic invasion, vascular invasion and nodal involvement, but no relationship was found with respect to tumor size, multicentrality, bilateralism, Hashimoto’s thyroiditis or presence of metastasis. Conclusion: This is the first study in Colombia, describing the clinical and histopathologic of patients with thyroid cancer in relation to the presence of the BRAF gene mutation characteristics.-

scholarly journals Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Peter W. Eide ◽  
Seyed H. Moosavi ◽  
Ina A. Eilertsen ◽  
Tuva H. Brunsell ◽  
Jonas Langerud ◽  
...  
Keyword(s):  
Gene Expression ◽  
Colorectal Cancer ◽  
Principal Components ◽  
Prognostic Value ◽  
Tumor Heterogeneity ◽  
Molecular Subtypes ◽  
R Package ◽  
Data Set ◽  
Primary Tumors ◽  
External Data

AbstractGene expression-based subtypes of colorectal cancer have clinical relevance, but the representativeness of primary tumors and the consensus molecular subtypes (CMS) for metastatic cancers is not well known. We investigated the metastatic heterogeneity of CMS. The best approach to subtype translation was delineated by comparisons of transcriptomic profiles from 317 primary tumors and 295 liver metastases, including multi-metastatic samples from 45 patients and 14 primary-metastasis sets. Associations were validated in an external data set (n = 618). Projection of metastases onto principal components of primary tumors showed that metastases were depleted of CMS1-immune/CMS3-metabolic signals, enriched for CMS4-mesenchymal/stromal signals, and heavily influenced by the microenvironment. The tailored CMS classifier (available in an updated version of the R package CMScaller) therefore implemented an approach to regress out the liver tissue background. The majority of classified metastases were either CMS2 or CMS4. Nonetheless, subtype switching and inter-metastatic CMS heterogeneity were frequent and increased with sampling intensity. Poor-prognostic value of CMS1/3 metastases was consistent in the context of intra-patient tumor heterogeneity.

Impact of BRAF mutations on prognosis and immunotherapy response in microsatellite instability/mismatch repair deficient metastatic colorectal cancer: A systematic review and meta-analysis.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 3557-3557
Author(s):  
Robin Park ◽  
Laércio Lopes da Silva ◽  
Sunggon Lee ◽  
Anwaar Saeed
Keyword(s):  
Colorectal Cancer ◽  
Systematic Review ◽  
Braf Mutation ◽  
Meta Analysis ◽  
Stage Iv ◽  
Stage I ◽  
Prognostic Impact ◽  
Braf Mutations ◽  
Mutation Status ◽  
The Impact

3557 Background: Mismatch repair deficient/microsatellite instability high (dMMR/MSI-H) colorectal cancer (CRC) defines a molecular subtype with distinct clinicopathologic characteristics including an excellent response to immunotherapy. Although BRAF mutations are established as a negative prognostic marker in CRC, whether they retain their negative prognostic impact in or alter the response to immunotherapy in dMMR/MSI-H CRC remains unknown. Herein, we present a systematic review and meta-analysis of the impact of BRAF mutations on the overall survival (OS) and immune checkpoint inhibitor (ICI) response in dMMR/MSI-H CRC. Methods: Studies published from inception to 26 January 2021 were searched in PubMed, Embase, and major conference proceedings (AACR, ASCO, and ESMO). Eligible studies included the following: 1) observational studies reporting outcomes based on BRAF mutation status in dMMR/MSI-H CRC patients and 2) experimental studies of ICI reporting outcomes based on BRAF mutation status in dMMR/MSI-H CRC patients. A summary hazard ratio (HR) was calculated for OS in BRAF mutated ( BRAFmut) vs. BRAF wild type ( BRAFwt) patients (pts) with the random effects meta-analysis (REM). A summary odds ratio (OR) was calculated for objective response rate (ORR) in BRAFmut vs. BRAFwt pts treated with ICI with the REM. Results: Database search conducted according to PRISMA guidelines found 4221 studies in total. Initial screening identified 30 studies and after full-text review, 9 studies (N = 4158 pts) were included for the meta-analysis of prognosis (analysis A) and 3 studies (N = 178 pts) were included for the meta-analysis of ICI response (analysis B). The outcome measures are summarized in the table below. Analysis A showed that in stage I-IV dMMR/MSI-H CRC pts, BRAFmut was associated with worse OS than BRAFwt (HR 1.57, 1.23-1.99). The heterogeneity was low (I2 = 21%). Subgroup analysis showed no significant difference in the prognostic impact of BRAF mutation status between stage IV only and stage I-IV CRC pts. Analysis B showed no difference in ORR (OR 1.04, 0.48-2.25) between BRAFmut vs. BRAFwt dMMR/MSI-H pts who received ICI. The heterogeneity was low (I2 = 0%). Conclusions: BRAF mutations retain their negative prognostic impact in dMMR/MSI-H stage I-IV and stage IV CRC but are not associated with differential ICI response. Limitations include the following: analysis A was based on retrospective studies; also, the impact of BRAF status on the survival outcome of ICI could not be assessed due to limited number of studies.[Table: see text]

Overall survival based on MSI and BRAF mutation status for stage II/III colorectal cancer.

2021 ◽  
Vol 39 (3_suppl) ◽  
pp. 132-132
Author(s):  
Sophiya Karki ◽  
Rashna Madan ◽  
Sarah Schmitt ◽  
Ziyan Y. Pessetto ◽  
Andrew K. Godwin ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Overall Survival ◽  
Microsatellite Instability ◽  
Median Survival ◽  
Braf Mutation ◽  
Prognostic Value ◽  
Stage Ii ◽  
Age At Diagnosis ◽  
Mutation Status ◽  
Braf Mutant

132 Background: Colorectal cancer (CRC) is the second leading cause of cancer-associated deaths in the United States. Some of the poor prognostic factors for metastatic CRC (mCRC) include BRAF V600E mutation and microsatellite instability (MSI) that result from mutation or loss of mismatch-repair genes. While the prognostic value of MSI-high CRC for early-stage patients treated with resection and adjuvant chemotherapy is favorable, the prognostic value of BRAF mutation is still unclear. Furthermore, the impact of BRAF mutation with concurrent microsatellite instability on overall survival has not been well investigated. Methods: Here, we collected BRAF mutation status and MSI status of stage II/III CRC patients (n=106) treated at the University of Kansas Cancer Center between September 2009 and July 2020 and compared overall survival between 4 subtypes:MSI-H/BRAF mutant (n=16), MSS/BRAF mutant (n=4), MSI-H/BRAF WT (n=17) and MSS/BRAF WT (n=69), further stratifying patients by age at diagnosis and tumor location. Molecular data were obtained from molecular oncology laboratory as PCR or IHC-based or acquired from outside records. Subgroup analyses were done for stage II and stage III cancers. Results: Table shows the patient characteristics. From our preliminary analysis, MSI-H CRC was found to be primarily a right-sided tumor (MSI-H/BRAF mutant: 94% and MSI-H/BRAF WT 76%). On the contrary, MSS CRC had a more heterogenous localization, spanning left colon, right colon and rectum. In our patient cohort, median survival was not reached for stage II patients whereas for stage III patients, BRAF mutation was associated with poor median survival irrespective of MSI status (MSS/BRAF mutant: 27 months and MSI-H/BRAF mutant 29 months). Median overall survival was found to be 87 months, not reached, 27 months and 29 months for MSS/BRAF WT, MSI-H/BRAF WT, MSS/BRAF mutant and MSI-H/BRAF mutant, respectively. Although associated with poor survival, MSI-H/BRAF mutant displayed later age at diagnosis (mean age 73) compared to MSS/BRAF mutant (mean age 60, p-value<0.029). Conclusions: Our finding suggests that BRAF mutation has poor prognosis even at earlier stages of the disease and that MSS/BRAF mutation, in particular, has the worst prognostic features. These findings highlight the need for BRAF-targeted therapy for CRC at any stage. Due to small sample size, however, our results warrant validation in a larger cohort. [Table: see text]

Sign in / Sign up

Export Citation Format

Share Document