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MYH polyposis syndrome: clinical findings, genetics issues and management

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Abstract

Colorectal cancer (CRC) is one of the most frequent cancer in first world. Two hereditary CCR syndrome have been described: familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer. A recently described biallelic mutation of MYH, is responsible for adenomatous polyposis with an increased risk of CRC and is responsible for 30–40 % of adenomatous polyposis cases in which an APC mutation cannot be found. However, there is no clear consensus in the literature as whether a monoallelic mutation increases the risk for colorectal cancer. In addition, some authors have indicated that the spectrum of extracolonic lesions in MYH associated polyposis (MAP) might be far different from that observed in FAP and could be more similar to Lynch syndrome spectrum. In this review we are going to describe some general and specific aspects of MAP, including genetic topics, clinical features, different phenotypes and strategies to reduce CCR risk.

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Acknowledgments

The author thank Dr J. Solera and Dra A. Custodio, expert cancer genetics and medical oncologist, respectively, both coordinators of Hereditary Cancer Unit in LA Paz Hospital, Madrid, for their contribution to this paper.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Oncology Department, Infanta Sofía University Hospital, AV de Europa, 32, San Sebastian de los Reyes, 28708, Madrid, Spain

    M. Sereno, M. Merino, M. López-Gómez, C. Gómez-Raposo, F. Zambrana Tébar, J. Moreno Rubio & E. Casado Sáenz

  2. Oncology Department, Navarra University Clinic in Madrid, Madrid, Spain

    M. Sereno, J. Espinós & S. Martín-Algarra

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  1. M. Sereno
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  2. M. Merino
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  3. M. López-Gómez
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  4. C. Gómez-Raposo
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  5. F. Zambrana Tébar
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  6. J. Moreno Rubio
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  7. J. Espinós
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  8. S. Martín-Algarra
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  9. E. Casado Sáenz
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Correspondence to M. Sereno.

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Sereno, M., Merino, M., López-Gómez, M. et al. MYH polyposis syndrome: clinical findings, genetics issues and management. Clin Transl Oncol 16, 675–679 (2014). https://doi.org/10.1007/s12094-014-1171-0

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  • DOI: https://doi.org/10.1007/s12094-014-1171-0

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