Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome

Familial Cancer
Marcia Cruz-CorreaSegundo Rodriguez-Quilichini

Abstract

Lynch syndrome (LS) is an inherited form of colorectal cancer (CRC) caused by germline mutations in the mismatch repair (MMR) genes. It accounts for approximately 5% of all CRCs. The prevalence of LS among US Hispanics is unknown. The objective of this study was to describe the germline mutations of LS in Caribbean Hispanics from Puerto Rico and Dominican Republic. A total of 89 subjects were recruited through the Puerto Rico Familial Colorectal Cancer Registry and were classified according to Amsterdam and Bethesda clinical guidelines. For those tumors with lack of expression of MMR protein, gene sequencing was ordered. A total of 35 individuals with deficient MMR system were identified: 22 had MMR mutations and 13 had tumors with absent MMR protein expression. Our results show that the mutation spectrum of Caribbean Hispanic LS patients was composed mostly of MSH2 (66.7%) mutations, followed by MLH1 (25.0%). One mutation was identified in MSH6 (8.3%). A previously unidentified mutation in MLH1 gene c.2044_2045del was found in one Caribbean Hispanic family. MMR mutation-positive individuals were found to be more likely to have a prominent family history of CRC and tumors located at the proximal colon. Compared to MSH2 mutation...Continue Reading

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Citations

Jun 2, 2016·Molecular Genetics & Genomic Medicine·Juvianee I Estrada-VerasCeila Pérez-Estrella de Ferrán
Apr 6, 2016·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Shivali BereraDaniel A Sussman
Dec 14, 2016·Journal of Genetic Counseling·Marcia Cruz-CorreaUNKNOWN Puerto Rico Clinical Cancer Genetics Consortia
Jan 28, 2017·Hereditary Cancer in Clinical Practice·Marcia Cruz-CorreaUNKNOWN Puerto Rico Clinical Cancer Genetics Consortia
Feb 23, 2019·Human Genomics·Julyann Pérez-MayoralMarcia Cruz-Correa
Oct 3, 2020·Journal of Racial and Ethnic Health Disparities·Isabel SierraMarcia Cruz-Correa
Oct 30, 2019·Hereditary Cancer in Clinical Practice·Muhammad Usman RashidMuhammed Aasim Yusuf

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