Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Sep 27.
doi: 10.1111/cge.70082. Online ahead of print.

Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil

Maria Claudia Dos Santos Luciano  1 , Paulo Goberlanio de Barros Silva  1 , Rosane Oliveira de Sant'Ana  1 , Clarissa Gondim Picanço de Albuquerque  1 , Francisca Fernanda Barbosa Oliveira  1 , Flavio da Silveira Bitencourt  1 , Isabelle Joyce de Lima Silva Fernandes  1 , José Fernando Bastos Moura  1 , Maria Júlia Barbosa Bezerra  1
Affiliations

Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil

Maria Claudia Dos Santos Luciano et al. Clin Genet. .

Abstract

Lynch syndrome (LS) is an autosomal dominant hereditary disorder that increases the risk of various cancers, especially colorectal (CRC) and endometrial cancer (EC). It results from pathogenic variants in mismatch repair (MMR) genes-primarily MLH1, MSH2, MSH6, and PMS2. Population-specific variant frequencies emphasize the need for localized genetic studies. Methods This study investigated LS prevalence in Ceará, Northeast Brazil, analyzing 150 patients: 130 with CRC, 13 with endometrial cancer, and 7 with other tumors but a family history of LS-associated cancers. Researchers used next-generation sequencing (NGS) to examine 131 genes linked to hereditary cancer syndromes. Variants were classified as Lynch-syndrome associated (MMR genes) or non-Lynch-associated (non-MMR genes). Detection rates varied from 1.18 to 5.07 per 100,000 people; pathogenic variant prevalence ranged from 0 to 1.96 per 100,000 across microregions. Overall, the prevalence of MMR variants was 0.56 per 100,000, and 0.34 for non-MMR variants. MSH2 showed the highest number of pathogenic or likely pathogenic variants, followed by MSH6, PMS2, and MLH1. The study found a particular geographic distribution of LS-related variants. One novel MSH6 variant and two unreported non-Lynch variants (APC and SMAD4) were identified. Conclusions These findings highlight three novel variants in MSH6, APC, and SMAD4, and indicate that Ceará has a higher diversity and a unique spectrum of variants. This reinforces the importance of regional genetic screening and suggests the need to expand testing access, especially in high-risk areas, to improve the early detection and prevention of hereditary cancers in Northeast Brazil.

Keywords: colorectal cancer; genetic evaluation; novel variant.

PubMed Disclaimer

References

    1. S. Y. Jun, E. J. Lee, M. J. Kim, et al., “Lynch Syndrome‐Related Small Intestinal Adenocarcinomas,” Oncotarget 8 (2017): 21483–21500.
    1. P. Peltomäki, M. Nyström, J. P. Mecklin, and T. T. Seppälä, “Lynch Syndrome Genetics and Clinical Implications,” Gastroenterology 164 (2023): 783–799.
    1. P. Møller, T. T. Seppälä, I. Bernstein, et al., “Cancer Risk and Survival in Path‐MMR Carriers by Gene and Gender up to 75 Years of Age: A Report From the Prospective Lynch Syndrome Database,” Gut 67 (2018): 1306–1316.
    1. X. Li, G. Liu, and W. Wu, “Recent Advances in Lynch Syndrome,” Experimental Hematology & Oncology 10 (2021): 37.
    1. R. S. McLeod, “Screening Strategies for Colorectal Cancer: A Systematic Review of the Evidence,” Canadian Journal of Gastroenterology 15 (2001): 647–660.

LinkOut - more resources