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Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam

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Abstract

In Vietnam, colorectal cancer is one of the top diagnosed cancers, with 5–10% originating from inherited mutations. This study aims to define the mutation spectrum associated with hereditary colorectal cancer syndromes (HCCS) in Vietnam, evaluate the influence of genetic testing on carriers’ awareness, and also investigate the barriers in familial testing. Genetic test reports were collected to identify HCCS cases, then cases underwent a survey investigating self-risk and familial-risk awareness, proactive cancer screening, and familial testing barriers. Participant characteristics, mutation prevalence, and results from the survey were descriptively analyzed and reported. Of all genetic test results, 3% (49/1632) were identified with mutations related to HCCS. Over 77% of them belonged to Lynch syndrome. PMS2 appeared to be the gene with the highest mutation frequency, while MLH1 was the lowest. 44% of cases further undertook cancer screening tests, and 48% of cases' families had uptake genetic testing. The biggest barrier of familial members for not taking genetic test was psychological reasons (fear, not being interested, or not feeling necessary). This study provided new evidence for HCCS mutation spectrum in Vietnamese population and the success in promoting cascade test in high-risk family members through financial and technical support. Also, study has suggested the needs of an innovative genetic testing process focusing on the quality of pre-and post-test consultancy, an increase in follow-ups, and the change in policy for permission of contacting relatives directly to improve the rate of cascade testing and proactive cancer screening.

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Abbreviations

CRC:

Colorectal cancer

FAP/AFAP:

Familial adenomatous polyposis/Attenuated familial adenomatous polyposis

FDR:

First-degree relatives

FHC:

Family history of cancer

HCCS:

Hereditary colorectal cancer syndromes

MAP:

MUTYH-associated adenomatous polyposis

MGI:

Medical Genetics Institute

NCCN:

National Comprehensive Cancer Network

NGS:

Next-Generation Gene Sequencing

SD:

Standard Deviation

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Acknowledgements

This work was supported by grants from Gene Solutions, Medical Genetics Institute.

Funding

The authors have no relevant financial or non-financial interests to disclose.

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Author notes

  1. Y-Thanh Lu and Huu-Thinh Nguyen have contributed equally to this work.

Authors and Affiliations

  1. University Medical Center, Ho Chi Minh City, Vietnam

    Huu-Thinh Nguyen, Duc-Huy Tran, Kien-Trung Le & Truong-Vinh Ngoc Pham

  2. Medical Genetics Institute, Ho Chi Minh City, Vietnam

    Y-Thanh Lu, Ba-Linh Tieu, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Hoa Giang & Hung-Sang Tang

  3. Gene Solutions, Ho Chi Minh City, Vietnam

    Y-Thanh Lu, Ba-Linh Tieu, Hoa Giang & Hung-Sang Tang

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  1. Huu-Thinh Nguyen
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Contributions

H-TN, D-HT, K-TL, and T-VNP recruited patients and performed clinical analysis; Y-TL, B-LT, and H-ST processed samples and analyzed data; T-TTD, D-KT, HG, and H-ST designed experiments and analyzed data; Y-TL prepared and drafted the manuscript; Y-TL and H-ST revised the manuscript. All authors contributed to the article and approved the submitted version.

Corresponding authors

Correspondence to Hoa Giang or Hung-Sang Tang.

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Conflict of interest

All the authors declare no conflict of interest.

Ethical approval

The study protocol was reviewed and approved by the institutional ethics committee of the University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam (approval number 164/HDDD).

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All authors and participants consent for publication of this study.

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All participants provided the inform consent prior to the study.

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Nguyen, HT., Lu, YT., Tran, DH. et al. Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam. Familial Cancer 22, 449–458 (2023). https://doi.org/10.1007/s10689-023-00344-1

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