Familial Cancer

, Volume 14, Issue 3, pp 415–425 | Cite as

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

  • 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
Original Article


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.


Lynch syndrome Hispanics Mismatch repair system MLH1 MSH2 MSH6 and/or PMS2 



This work was partially supported by the National Institute on Minority Health Disparities Award Numbers 8U54MD 007587-03 and U54MD007587; NCI Award Numbers 5K22CA115913-03, R21CA167220-01, 5R03CA130034-02, and U54CA096297; Center for Collaborative Research in Health Disparities RCMI Award Number G12MD007600. In addition, the authors will like to thank the patients involved in the study for their treasured contribution.

Ethical standard

None of the authors have any commercial conflicts to disclose. The procedures performed during the research described here were in accordance with ethical standards of responsible human experimentation both institutional and national. Institutional Review Board of the University of Puerto Rico Medical Sciences Campus approved this study. Informed consent was obtained for patients included in the study.


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Copyright information

© Springer Science+Business Media Dordrecht 2015

Authors and Affiliations

  • Marcia Cruz-Correa
    • 1
    • 2
    • 3
    • 4
  • Yaritza Diaz-Algorri
    • 1
  • Julyann Pérez-Mayoral
    • 1
    • 2
  • Wasilah Suleiman-Suleiman
    • 2
  • Maria del Mar Gonzalez-Pons
    • 1
  • Carlos Bertrán
    • 1
  • Nicolás Casellas
    • 1
  • Natalia Rodríguez
    • 1
  • Sherly Pardo
    • 3
  • Keyla Rivera
    • 5
  • Rafael Mosquera
    • 6
  • Segundo Rodriguez-Quilichini
    • 4
  1. 1.Department of Gastrointestinal Oncology and GeneticsUniversity of Puerto Rico Comprehensive Cancer CenterSan JuanUSA
  2. 2.Department of MedicineUniversity of Puerto Rico School of MedicineSan JuanUSA
  3. 3.Department of BiochemistryUniversity of Puerto Rico School of MedicineSan JuanUSA
  4. 4.Department of SurgeryUniversity of Puerto Rico School of MedicineSan JuanUSA
  5. 5.Department of PathologyUniversity of Puerto Rico School of MedicineSan JuanUSA
  6. 6.Puerto Rico Gastroenterology AssociationSan JuanUSA

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