Clinical and Translational Oncology

, Volume 12, Issue 12, pp 849–851 | Cite as

A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family

  • Ruth ZárateEmail author
  • Ana Patiño-García
  • Jesús Sola
  • Jesús García-Foncillas
Case Reports


We report a new germline mutation in exon 13 of the hMSH2 gene (c.2081T>C; F694S) in a patient diagnosed with colorectal carcinoma. The patient’s family fulfilled the clinical criteria of the Bethesda guidelines for Lynch syndrome. The segregation analysis determined the presence of the mutation in the proband’s mother (breast cancer younger than 40 years old) and in two healthy daughters. The mutation was not present in 116 normal controls screened. The medical implications for the carrier relatives are discussed.


MSH2 Lynch syndrome Breast cancer Spanish Colon cancer 


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    Vasen HF, Möslein G, Alonso A et al (2007) Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 44:353–362PubMedCrossRefGoogle Scholar
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    Murata H, Khattar NH, Kang Y et al (2002) Genetic and epigenetic modification of mismatch repair genes hMSH2 and hMLH1 in sporadic breast cancer with microsatellite instability. Oncogene 21:5696–5703PubMedCrossRefGoogle Scholar

Copyright information

© Feseo 2010

Authors and Affiliations

  • Ruth Zárate
    • 1
    Email author
  • Ana Patiño-García
    • 1
    • 2
  • Jesús Sola
    • 3
  • Jesús García-Foncillas
    • 1
    • 4
  1. 1.Clinical Genetics UnitUniversity Clinic of Navarra (CUN)Pamplona, NavarraSpain
  2. 2.Laboratory of Pediatrics Departament of PediatricsUniversity Clinic of Navarra (CUN)Pamplona, NavarraSpain
  3. 3.Department of PathologyUniversity Clinic of Navarra (CUN)Pamplona, NavarraSpain
  4. 4.Department of OncologyUniversity Clinic of Navarra (CUN)Pamplona, NavarraSpain

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