Telomere length and genetic anticipation in Lynch syndrome.

Telomere length variation has been associated with increased risk of several types of tumors, and telomere shortening, with genetic anticipation in a number of genetic diseases including hereditary cancer syndromes. No conclusive studies have been performed for Lynch syndrome, a hereditary colorecta...

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Autores principales:	Nuria Seguí, Marta Pineda, Elisabet Guinó, Ester Borràs, Matilde Navarro, Fernando Bellido, Victor Moreno, Conxi Lázaro, Ignacio Blanco, Gabriel Capellá, Laura Valle
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a0a18a6df08e4e15a259effde6bf383e
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spelling	oai:doaj.org-article:a0a18a6df08e4e15a259effde6bf383e2021-11-18T07:48:09ZTelomere length and genetic anticipation in Lynch syndrome.1932-620310.1371/journal.pone.0061286https://doaj.org/article/a0a18a6df08e4e15a259effde6bf383e2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23637804/?tool=EBIhttps://doaj.org/toc/1932-6203Telomere length variation has been associated with increased risk of several types of tumors, and telomere shortening, with genetic anticipation in a number of genetic diseases including hereditary cancer syndromes. No conclusive studies have been performed for Lynch syndrome, a hereditary colorectal cancer syndrome caused by germline mutations in the DNA mismatch repair genes. Here we evaluate telomere length in Lynch syndrome, both as a cancer risk factor and as a mechanism associated with anticipation in the age of cancer onset observed in successive generations of Lynch syndrome families. Leukocyte telomere length was measured in 244 mismatch repair gene mutation carriers from 96 Lynch syndrome families and in 234 controls using a monochrome multiplex quantitative PCR method. Cancer-affected mutation carriers showed significantly shorter telomeres than cancer-free mutation carriers. In addition, cancer-affected carriers showed the most pronounced shortening of telomere length with age, compared with unaffected carriers. The anticipation in the age of cancer onset observed in successive generations was not associated with telomere shortening, although, interestingly, all mother-son pairs showed telomere shortening. In conclusion, cancer-affected mismatch repair gene mutation carriers have distinct telomere-length pattern and dynamics. However, anticipation in the age of onset is not explained by telomere shortening. Pending further study, our findings suggest that telomere attrition might explain the previously reported dependence of cancer risk on the parent-of-origin of mismatch repair gene mutations.Nuria SeguíMarta PinedaElisabet GuinóEster BorràsMatilde NavarroFernando BellidoVictor MorenoConxi LázaroIgnacio BlancoGabriel CapelláLaura VallePublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 4, p e61286 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Nuria Seguí Marta Pineda Elisabet Guinó Ester Borràs Matilde Navarro Fernando Bellido Victor Moreno Conxi Lázaro Ignacio Blanco Gabriel Capellá Laura Valle Telomere length and genetic anticipation in Lynch syndrome.
description	Telomere length variation has been associated with increased risk of several types of tumors, and telomere shortening, with genetic anticipation in a number of genetic diseases including hereditary cancer syndromes. No conclusive studies have been performed for Lynch syndrome, a hereditary colorectal cancer syndrome caused by germline mutations in the DNA mismatch repair genes. Here we evaluate telomere length in Lynch syndrome, both as a cancer risk factor and as a mechanism associated with anticipation in the age of cancer onset observed in successive generations of Lynch syndrome families. Leukocyte telomere length was measured in 244 mismatch repair gene mutation carriers from 96 Lynch syndrome families and in 234 controls using a monochrome multiplex quantitative PCR method. Cancer-affected mutation carriers showed significantly shorter telomeres than cancer-free mutation carriers. In addition, cancer-affected carriers showed the most pronounced shortening of telomere length with age, compared with unaffected carriers. The anticipation in the age of cancer onset observed in successive generations was not associated with telomere shortening, although, interestingly, all mother-son pairs showed telomere shortening. In conclusion, cancer-affected mismatch repair gene mutation carriers have distinct telomere-length pattern and dynamics. However, anticipation in the age of onset is not explained by telomere shortening. Pending further study, our findings suggest that telomere attrition might explain the previously reported dependence of cancer risk on the parent-of-origin of mismatch repair gene mutations.
format	article
author	Nuria Seguí Marta Pineda Elisabet Guinó Ester Borràs Matilde Navarro Fernando Bellido Victor Moreno Conxi Lázaro Ignacio Blanco Gabriel Capellá Laura Valle
author_facet	Nuria Seguí Marta Pineda Elisabet Guinó Ester Borràs Matilde Navarro Fernando Bellido Victor Moreno Conxi Lázaro Ignacio Blanco Gabriel Capellá Laura Valle
author_sort	Nuria Seguí
title	Telomere length and genetic anticipation in Lynch syndrome.
title_short	Telomere length and genetic anticipation in Lynch syndrome.
title_full	Telomere length and genetic anticipation in Lynch syndrome.
title_fullStr	Telomere length and genetic anticipation in Lynch syndrome.
title_full_unstemmed	Telomere length and genetic anticipation in Lynch syndrome.
title_sort	telomere length and genetic anticipation in lynch syndrome.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/a0a18a6df08e4e15a259effde6bf383e
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Telomere length and genetic anticipation in Lynch syndrome.

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