Whole genome sequencing of Malaysian colorectal cancer patients reveals specific druggable somatic mutations.

KDM4E MUC16 Malaysians colorectal cancer POTED RNF43 druggable alterations precision medicine whole genome sequencing

Journal

Frontiers in molecular biosciences
ISSN: 2296-889X
Titre abrégé: Front Mol Biosci
Pays: Switzerland
ID NLM: 101653173

Informations de publication

Date de publication:
2022
Historique:
received: 19 07 2022
accepted: 20 09 2022
entrez: 3 3 2023
pubmed: 4 3 2023
medline: 4 3 2023
Statut: epublish

Résumé

The incidences of colorectal cancer (CRC) are continuously increasing in some areas of the world, including Malaysia. In this study, we aimed to characterize the landscape of somatic mutations using the whole-genome sequencing approach and identify druggable somatic mutations specific to Malaysian patients. Whole-genome sequencing was performed on the genomic DNA obtained from 50 Malaysian CRC patients' tissues. We discovered the top significantly mutated genes were APC, TP53, KRAS, TCF7L2 and ACVR2A. Four novel, non-synonymous variants were identified in three genes, which were KDM4E, MUC16 and POTED. At least one druggable somatic alteration was identified in 88% of our patients. Among them were two frameshift mutations in

Identifiants

pubmed: 36866106
doi: 10.3389/fmolb.2022.997747
pii: 997747
pmc: PMC9972984
doi:

Types de publication

Journal Article

Langues

eng

Pagination

997747

Informations de copyright

Copyright © 2023 Mohd Yunos, Ab Mutalib, Khoo, Saidin, Ishak, Syafruddin, Tieng, Md Yusof, Abd Razak, Mahamad Nadzir, Abu, Rose, Sagap, Mazlan and Jamal.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Ryia Illani Mohd Yunos (RI)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Nurul-Syakima Ab Mutalib (NS)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Jia-Shiun Khoo (JS)

Codon Genomics SB, Seri Kembangan, Selangor, Malaysia.

Sazuita Saidin (S)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Muhiddin Ishak (M)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Saiful Effendi Syafruddin (SE)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Francis Yew Fu Tieng (FYF)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Najwa Farhah Md Yusof (NF)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Mohd Ridhwan Abd Razak (MR)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Norshahidah Mahamad Nadzir (N)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Nadiah Abu (N)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Isa Md Rose (IM)

Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.

Ismail Sagap (I)

Department of Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.

Luqman Mazlan (L)

Department of Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.

Rahman Jamal (R)

UKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia.

Classifications MeSH