Skip to main content
SpringerLink
Log in

Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome

  • Letter to the Editor
  • Published:
International Journal of Colorectal Disease Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Farrell M, Hughes D, Drost M, Wallace A, Cummins R, Fletcher T et al (2013) Multivariate analysis of MLH1 c. 1664T> C (p. Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity. Fam Cancer 12(4):741–747

  2. Farrell MP, Hughes DJ, Berry IR, Gallagher DJ, Glogowski EA, Payne SJ, et al (2012) Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome. Fam Cancer 11(3):509–518

  3. Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé À et al (2010) MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res 70(19):7379–7391

    Article  PubMed  Google Scholar 

  4. Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138:2073–2087, e3

    Article  CAS  PubMed Central  PubMed  Google Scholar 

Download references

Acknowledgments

We thank all the donors and the Service of Gastroenterology of the University “Hospital San Cecilio” (Granada, Spain) for making this study possible. We also want to thank the “Instituto de Biologia y Genetica Molecular, Grupo de Splicing y Cancer, CSIC” for performing the functional analysis of this variation.

Author information

Authors and Affiliations

  1. Unidad Gestión Clínica Digestivo, Hospital Universitario S. Cecilio de Granada, Avenida de Madrid s/n, Granada, Spain

    J. L. Martín Ruiz

  2. Laboratorio de Identificación Genética, Departamento de Medicina Legal y Toxicología, Facultad de Medicina, Universidad de Granada, Avda. de Madrid 11, Granada, 18071, Spain

    M. J. Alvarez-Cubero

  3. GENYO (Pfizer-University of Granada-Andalusian Government Centre for Genomics and Oncological Research), Granada, Spain

    M. J. Alvarez-Cubero

  4. Lorgen G.P, S.L., Business Innovation Center - BIC/CEEL, Parque Tecnológico de Ciencias de la Salud, Av. de la Innovación 1, Granada, 18016, Spain

    F. Fernandez Rosado, E. Martinez Espín & C. Entrala Bernal

Authors
  1. J. L. Martín Ruiz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. J. Alvarez-Cubero
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. F. Fernandez Rosado
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. E. Martinez Espín
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. C. Entrala Bernal
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. J. Alvarez-Cubero.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ruiz, J.L.M., Alvarez-Cubero, M.J., Rosado, F.F. et al. Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome. Int J Colorectal Dis 29, 1019–1020 (2014). https://doi.org/10.1007/s00384-014-1890-2

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00384-014-1890-2

Keywords

Search

Navigation