ArticleFamilial cancer2015
Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.
Article in Familial cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Microsatellite instability and mismatch repair deficiency prevalence among Hispanic/Latino individuals with colorectal cancer: a systematic review and meta-analysis.International journal of colorectal disease · 2026Pooled it
- Early-Onset Colorectal Cancer in Neglected Populations: Would South Africa's Strategies Improve Screening, Management, and Genetic Insights Worldwide?Journal of racial and ethnic health disparities · 2026Review
- Implementation of Universal Colorectal Cancer Screening for Lynch Syndrome in Hispanics Living in Puerto Rico.Journal of racial and ethnic health disparities · 2021Article
- Association of genetic ancestry with colorectal tumor location in Puerto Rican Latinos.Human genomics · 2019Article
- Prevalence and spectrum ofHereditary cancer in clinical practice · 2019Article
- Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2018Article
- DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.Cancer · 2017Article
- A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.BMC cancer · 2017Article
- Clinical Cancer Genetics Disparities among Latinos.Journal of genetic counseling · 2017Review
- Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.Cancer genetics · 2017Article
- Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.Hereditary cancer in clinical practice · 2017Review
- Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities.Molecular genetics & genomic medicine · 2016Article
- Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.World journal of gastrointestinal oncology · 2016Review
- Frequency of Mismatch Repair Protein Deficiency in a Puerto Rican Population with Colonic Adenoma and Adenocarcinoma.Cancer genomics & proteomicsArticle
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
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 carriers, MLH1 mutation-positive individuals were more likely to have a strong family history of CRC and LS associated cancers. Furthermore, insurance coverage for genetic testing was found to be limited in the study population with 65.1% of the individuals recruited were denied coverage. This report presents the first description of the mutation spectrum and clinicopathologic characteristics of LS Caribbean Hispanics patients.
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