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Clinical and genetic characteristics of patients with multiple polyposis of the large bowel negative for APC and MYH gene mutations using conventional methods

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Abstract

A genealogical analysis and molecular and clinical investigations were carried out in 19 probands with multiple colorectal adenomas (numbering near 100 or more). Twelve of these patients (63.1%) were negative for the APC and MYH gene mutations using conventional methods. A hereditary form of the disorder was confirmed in three (25%) probands. The median age of the disease onset in APC-negative patients was somewhere between the mean age of the disease onset in APC- and MYH-positive polyposis. Extraintestinal signs of the disorder were less frequent in APC-negative than in APC-positive probands. Half of APC- and MYH-negative probands with multiple polyposis developed colon cancer. APC- and MYH-negative patients formed a genetically heterogeneous group.

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Authors and Affiliations

  1. Institute of Hereditary Pathology, National Academy of Medical Sciences, ul. Lisenka 31a, Lviv, 79008, Ukraine

    M. Lozynska, A. Pławski & Y. Lozynskyy

  2. Institute of Human Genetics, Polish Academy of Sciences, Strzeszy ska street 32, Poznan, 60-479, Poland

    M. Lozynska, A. Pławski & Y. Lozynskyy

  3. Danylo Halytskyy Lviv National Medical University, ul. Pekarskaya 69, Lviv, 79010, Ukraine

    M. Lozynska, A. Pławski & Y. Lozynskyy

Authors
  1. M. Lozynska
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  2. A. Pławski
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  3. Y. Lozynskyy
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Correspondence to M. Lozynska.

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Original Ukrainian Text © M. Lozynska, A. P awski, Y. Lozynskyy, 2014, published in Tsitologiya i Genetika, 2014, Vol. 48, No. 1, pp. 18–24.

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Lozynska, M., Pławski, A. & Lozynskyy, Y. Clinical and genetic characteristics of patients with multiple polyposis of the large bowel negative for APC and MYH gene mutations using conventional methods. Cytol. Genet. 48, 15–20 (2014). https://doi.org/10.3103/S0095452714010058

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  • DOI: https://doi.org/10.3103/S0095452714010058

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