Traditional herbal medicine as adjunctive therapy for colorectal cancer: a scoping review

Rohani, Siti; Suhada, Nur; Mohammad, Zulkefley; Azhar, Shamsul

doi:10.53388/tmr20220127260

Cited by 6 publications

(1 citation statement)

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“…Nearly all FAP patients develop CRC if not identified and treated early ( Half et al, 2009 ). Adjuvant chemotherapy and immunotherapy are required in most instances of FAP after total colectomy, similar to sporadic colorectal cancer and Lynch syndrome ( Zhang et al, 2019 ; Koskenvuo et al, 2020 ; Kemp Bohan et al, 2021 ; Rohani et al, 2022 ). Cancer research significantly emphasizes the therapeutic targeting of abnormal beta-catenin activity.…”

Section: Discussionmentioning

confidence: 99%

Identification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis

Li¹,

He²,

Gong³

et al. 2023

Front. Mol. Biosci.

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Introduction: Familial adenomatous polyposis (FAP) is the second most commonly inherited colorectal cancer (CRC) predisposition caused by germline mutations within the adenomatous polyposis coli (APC) gene. The molecular defects and clinical manifestations of two FAP families were analyzed, and individual prevention strategies suitable for mutation carriers in different families were proposed.Methods and results: The pathogenic gene mutations were identified among the two families using whole-exome sequencing and verified with Sanger sequencing or quantitative polymerase chain reaction (qPCR). One novel (GRCh37:Chr5: 112145676–112174368, del, 28,692 bp) and a known (c.C847T:p.R283X) mutation in the APC gene were pathogenic mutations for FAP, according to the sequencing data and tumorigenesis pattern among the family members. The two mutations led to a premature translational stop signal, synthesizing an absent or disrupted protein product.Conclusion: Our findings expand the known germline mutation spectrum of the APC gene among the Chinese population. This reaffirms the importance of genetic testing in FAP. Genetic consultation and regular follow-ups are necessary for the individualized treatment of cancer-afflicted families with APC expression deficiency. Additional work is required to develop safe and effective chemotherapy and immunotherapy for FAP based on the mutation type.

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Section: Discussionmentioning

confidence: 99%

Identification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis

Li¹,

He²,

Gong³

et al. 2023

Front. Mol. Biosci.

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Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

Li,

Ni,

Wang

et al. 2024

World J Surg Onc

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Background Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2. In this study, we analyzed the molecular defects and clinical manifestations of two families affected with CRC and proposed appropriate individual preventive strategies for all carriers of the variant. Methods We recruited two families diagnosed with CRC and combined their family history and immunohistochemical results to analyze the variants of probands and those of other family members by using whole exome sequencing. Subsequently, gene variants in each family were screened by comparing them with the variants available in the public database. Sanger sequencing was performed to verify the variant sites. An online platform (https://www.uniprot.org) was used to analyze the functional domains of mutant proteins. Results A novel frameshift variant (NM_001281492, c.1129_1130del, p.R377fs) in MSH6 and a known deleterious variant (NM_000249.4:c.1731G > A, p.S577S) in MLH1 were identified in the two families with CRC. Using bioinformatics tools, we noted that the frameshift variant reduced the number of amino acids in the MSH6 protein from 1230 to 383, thereby leading to no MSH6 protein expression. The silent variant caused splicing defects and was strongly associated with LS. 5-Fluorouracil-based adjuvant chemotherapy is not recommended for patients with LS. Conclusions The novel frameshift variant (MSH6, c.1129_1130del, p.R377fs) is likely pathogenic to LS, and the variant (MLH1, c.1731G > A, p.S577S) has been further confirmed to be pathogenic to LS. Our findings underscore the significance of genetic testing for LS and recommend that genetic consultation and regular follow-ups be conducted to guide individualized treatment for cancer-afflicted families, especially those with a deficiency in MMR expression.

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Association of PD-1 + Treg/PD-1 + CD8 ratio and tertiary lymphoid structures with prognosis and response in advanced gastric cancer patients receiving preoperative treatment

Liu,

Xu,

Zhou

et al. 2024

J Transl Med

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Traditional herbal medicine as adjunctive therapy for colorectal cancer: a scoping review

Cited by 6 publications

References 0 publications

Identification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis

Identification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis

Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

Association of PD-1 + Treg/PD-1 + CD8 ratio and tertiary lymphoid structures with prognosis and response in advanced gastric cancer patients receiving preoperative treatment

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