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Title: Telomere length and genetic anticipation in lynch syndrome
Author: Seguí Gracia, Nuria
Pineda Riu, Marta
Guinó, Elisabet
Borràs Flores, Ester
Navarro, Matilde
Bellido Molías, Fernando
Moreno Aguado, Víctor
Lázaro García, Conxi
Blanco Guillermo, Ignacio
Capellá, G. (Gabriel)
Valle Velasco, Laura
Keywords: Càncer colorectal
Genètica humana
Malalties hereditàries
Colorectal cancer
Human genetics
Genetic diseases
Issue Date: 17-Apr-2013
Publisher: Public Library of Science (PLoS)
Abstract: 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.
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It is part of: PLoS One, 2013, vol. 8, num. 4, p. e61286
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Patologia i Terapèutica Experimental)

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