RGD Reference Report - Characterization of genomic alterations in Chinese colorectal cancer patients. - Rat Genome Database

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Characterization of genomic alterations in Chinese colorectal cancer patients.

Authors: Huang, Wei  Li, Hui  Shi, Xiaoliang  Lin, Minglin  Liao, Cun  Zhang, Shuirong  Shi, Weiwei  Zhang, Lin  Zhang, Xiaolong  Gan, Jialiang 
Citation: Huang W, etal., Jpn J Clin Oncol. 2021 Jan 1;51(1):120-129. doi: 10.1093/jjco/hyaa182.
RGD ID: 150539450
Pubmed: PMID:33106877   (View Abstract at PubMed)
DOI: DOI:10.1093/jjco/hyaa182   (Journal Full-text)


OBJECTIVE: Colorectal cancer is one of the most prevalent types of cancer worldwide. Right-sided and left-sided colorectal cancer (RCC and LCC) patients respond differently to treatment. We aimed to identify the different mutational profile between RCC and LCC and provided evidence for future precision therapy.
METHODS: A total of 630 Chinese colorectal cancer patients, including 467 (74.1%) LCC and 163 (25.9%) RCC, were enrolled in this cohort. Both formalin-fixed paraffin-embedded tumor tissues and matching blood samples were collected and deep sequenced targeting 450 cancer genes for genomic alteration analysis. Tumor mutational burden was measured by an algorithm developed in-house. Correlation analysis was performed by Fisher's exact test.
RESULTS: The most common mutated genes were TP53 (77.0%), APC (71.7%), KRAS (50.0%), SMAD4 (19.8%), PIK3CA (18.3%), FBXW7 (17.5%), TCF7L2 (12.5%), SOX9 (11.3%), LRP1B (10.8%), ARID1A (10.3%) and FAT4 (10.3%). The mutation frequencies of TP53 and APC in LCC were significantly higher than that of RCC, while the mutation frequency of PIK3CA was lower than that of RCC. Six gene fusions were specifically detected in RCC patients. Colorectal cancer sites were associated with gender (P = 4.15 × 10-5) and tumor differentiation (P = 0.059). In LCC, the gender-associated genes were FAT4, EP300, FAT1, LRP1, ARID1B, AR, FYN and TAF1, while in RCC, they were ARID1A, SMARCA4, LRP1 and GRIN2A. The mutations of 18 genes were associated with tumor differentiation (8 for LCC and 10 for RCC). High tumor mutational burden was more common in RCC. Our results implied more potential targeted drug therapy opportunities for RCC.
CONCLUSION: We describe the different molecular characteristics of LCC and RCC. Our result supported a better prognosis of RCC than LCC in Chinese colorectal cancer patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
colorectal cancer sexual_dimorphism IAGP 150539450left-sided colorectal cancer and DNA:mutations:multiple (human)RGD 
colorectal cancer sexual_dimorphism ISOFAT1 (Homo sapiens)150539450; 150539450left-sided colorectal cancer and DNA:mutations:multiple (human)RGD 
colorectal cancer sexual_dimorphism IAGP 150539450right-sided colorectal cancer and DNA:mutations:multiple (human)RGD 
colorectal cancer sexual_dimorphism ISOGRIN2A (Homo sapiens)150539450; 150539450right-sided colorectal cancer and DNA:mutations:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Neoplasm of the large intestine sexual_dimorphism IAGP 150539450left-sided colorectal cancer and DNA:mutations:multiple (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Fat1  (FAT atypical cadherin 1)
Grin2a  (glutamate ionotropic receptor NMDA type subunit 2A)

Genes (Mus musculus)
Fat1  (FAT atypical cadherin 1)
Grin2a  (glutamate receptor, ionotropic, NMDA2A (epsilon 1))

Genes (Homo sapiens)
FAT1  (FAT atypical cadherin 1)
GRIN2A  (glutamate ionotropic receptor NMDA type subunit 2A)


Additional Information