Somatic targeted mutation profiling of colorectal cancer precursor lesions View Full Text


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Article Info

DATE

2022-06-28

AUTHORS

Wellington dos Santos, Mariana Bisarro dos Reis, Jun Porto, Ana Carolina de Carvalho, Marcus Matsushita, Gabriela Oliveira, Kari Syrjänen, Rui Manuel Reis, Denise Peixoto Guimarães

ABSTRACT

BackgroundMost colorectal cancers (CRC) arise from precursor lesions. This study aimed to characterize the mutation profile of colorectal cancer precursor lesions in a Brazilian population.MethodsIn total, 90 formalin-fixed paraffin-embedded colorectal precursor lesions, including 67 adenomas, 7 sessile serrated lesions, and 16 hyperplastic polyps, were analyzed by next-generation sequencing using a panel of 50 oncogenes and tumor suppressor genes. The genetic ancestry of the patients was estimated.ResultsSomatic driver mutations were identified in 66.7% of cases, including alterations in APC (32.2%), TP53 (20.0%), KRAS (18.9%), BRAF (13.3%) and EGFR (7.8%). Adenomas displayed a higher number of mutations, mainly in APC, compared to serrated polyps (73.1% vs. 47.8%, p = 0.026). Advanced adenomas had a significantly higher frequency of mutation in KRAS and a high overall mutation rate than early adenomas (92.9% vs. 59%, p = 0.006). A high degree of ancestry admixture was observed in the population studied, with a predominance of European components (mean of 73%) followed by African (mean of 11.3%). No association between genetic ancestry and type of lesions was found. The mutation profile of Brazilian colorectal precursor lesions exhibits alteration in APC, KRAS, TP53, and BRAF at different frequencies according to lesion type.ConclusionsThese results bestow the knowledge of CRC's biologic history and support the potential of these biomarkers for precursor lesions detection in CRC screening of the Brazilian population. More... »

PAGES

143

References to SciGraph publications

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    29 schema:description BackgroundMost colorectal cancers (CRC) arise from precursor lesions. This study aimed to characterize the mutation profile of colorectal cancer precursor lesions in a Brazilian population.MethodsIn total, 90 formalin-fixed paraffin-embedded colorectal precursor lesions, including 67 adenomas, 7 sessile serrated lesions, and 16 hyperplastic polyps, were analyzed by next-generation sequencing using a panel of 50 oncogenes and tumor suppressor genes. The genetic ancestry of the patients was estimated.ResultsSomatic driver mutations were identified in 66.7% of cases, including alterations in APC (32.2%), TP53 (20.0%), KRAS (18.9%), BRAF (13.3%) and EGFR (7.8%). Adenomas displayed a higher number of mutations, mainly in APC, compared to serrated polyps (73.1% vs. 47.8%, p = 0.026). Advanced adenomas had a significantly higher frequency of mutation in KRAS and a high overall mutation rate than early adenomas (92.9% vs. 59%, p = 0.006). A high degree of ancestry admixture was observed in the population studied, with a predominance of European components (mean of 73%) followed by African (mean of 11.3%). No association between genetic ancestry and type of lesions was found. The mutation profile of Brazilian colorectal precursor lesions exhibits alteration in APC, KRAS, TP53, and BRAF at different frequencies according to lesion type.ConclusionsThese results bestow the knowledge of CRC's biologic history and support the potential of these biomarkers for precursor lesions detection in CRC screening of the Brazilian population.
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    37 Brazilian population
    38 CRC screening
    39 ConclusionsThese results
    40 EGFR
    41 European component
    42 KRAS
    43 MethodsIn total
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    45 adenomas
    46 admixture
    47 advanced adenomas
    48 alterations
    49 ancestry
    50 ancestry admixture
    51 association
    52 biologic history
    53 biomarkers
    54 cancer
    55 cancer precursor lesions
    56 cases
    57 colorectal cancer
    58 colorectal cancer precursor lesions
    59 colorectal precursor lesions
    60 components
    61 degree
    62 detection
    63 different frequencies
    64 driver mutations
    65 early adenomas
    66 frequency
    67 genes
    68 genetic ancestry
    69 high degree
    70 high frequency
    71 higher number
    72 history
    73 hyperplastic polyps
    74 knowledge
    75 lesion detection
    76 lesion type
    77 lesions
    78 mutation profiles
    79 mutation profiling
    80 mutation rate
    81 mutations
    82 next-generation sequencing
    83 number
    84 oncogene
    85 overall mutation rate
    86 panel
    87 patients
    88 polyps
    89 population
    90 potential
    91 precursor lesions
    92 predominance
    93 profile
    94 profiling
    95 rate
    96 results
    97 screening
    98 sequencing
    99 serrated lesions
    100 serrated polyps
    101 sessile serrated lesions
    102 study
    103 suppressor gene
    104 total
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