Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Autor: Do MD; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Nguyen TH; University Medical Center, Ho Chi Minh City, Vietnam., Le KT; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Le LHG; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Nguyen BH; University Medical Center, Ho Chi Minh City, Vietnam., Le KT; University Medical Center, Ho Chi Minh City, Vietnam., Doan TPT; Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Ho CQ; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Nguyen HN; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Tran TD; Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Vu HA; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Jazyk: angličtina
Zdroj: Asia-Pacific journal of clinical oncology [Asia Pac J Clin Oncol] 2022 Dec; Vol. 18 (6), pp. 678-685. Date of Electronic Publication: 2022 Jan 30.
DOI: 10.1111/ajco.13749
Abstrakt: Background: Colorectal cancer (CRC) is one of the most common cancer globally. Understanding the genetic characteristics of CRC is essential for appropriate treatment and genetic counseling.
Methods: The genetic profile of CRC tumor tissues was identified using next-generation sequencing of 17 target genes (MLH1, MSH2, MSH6, PMS2, EPCAM, APC, SMAD4, BMPR1A, MUTYH, STK11, PTEN, TP53, ATM, CDH1, CHEK2, POLE, and POLD1) in a cohort of 101 Vietnamese patients diagnosed with young-onset CRC. Corresponding germline genetic alterations of determined somatic mutations were subsequently confirmed from patients' blood samples.
Results: Somatic mutations were determined in 96 out of 101 CRC patients. Two-thirds of the tumors harbored more than two mutations, and the most prevalent mutated genes were TP53 and APC. Among confirmed germline mutations, 10 pathogenic mutations and 11 variants of unknown significance were identified.
Conclusions: Given the burden of CRC and the gradually reducing cost of genetic testing, multigene panel screening can benefit young-onset CRC patients as well as their relatives.
(© 2022 John Wiley & Sons Australia, Ltd.)
Databáze: MEDLINE
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