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01-09-2015 | Original Article

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

Authors: Marcia Cruz-Correa, Yaritza Diaz-Algorri, Julyann Pérez-Mayoral, Wasilah Suleiman-Suleiman, Maria del Mar Gonzalez-Pons, Carlos Bertrán, Nicolás Casellas, Natalia Rodríguez, Sherly Pardo, Keyla Rivera, Rafael Mosquera, Segundo Rodriguez-Quilichini

Published in: Familial Cancer | Issue 3/2015

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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Title: Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome
Authors: Marcia Cruz-Correa
Yaritza Diaz-Algorri
Julyann Pérez-Mayoral
Wasilah Suleiman-Suleiman
Maria del Mar Gonzalez-Pons
Carlos Bertrán
Nicolás Casellas
Natalia Rodríguez
Sherly Pardo
Keyla Rivera
Rafael Mosquera
Segundo Rodriguez-Quilichini
Publication date: 01-09-2015
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 3/2015
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-015-9795-y

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