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Title: The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
Author: Abulí, Anna
Bujanda, Luis
Muñoz, Jenifer
Buch, Stephan
Maiorana, Maria Valeria
Veneroni, Silvia
Van Wezel, Tom
Liu, Tao
Westers, Helga
Esteban-Jurado, Clara
Ocaña, Teresa
Piqué, J. M. (Piqué Badía)
Andreu, Montserrat
Jover, Rodrigo
Carracedo Álvarez, Ángel
Llor, Xavier
Castells Garangou, Antoni
Dunlop, Malcolm
Hofstra, Robert
Lindblom, Annika
Xicola, Rosa
Wijnen, Juul
Peterlongo, Paolo
Hampe, Jochen
Ruiz-Ponte, Clara
Castellví-Bel, Sergi
Keywords: Càncer colorectal
Genètica molecular
Malalties hereditàries
Colorectal cancer
Molecular genetics
Genetic diseases
Issue Date: 17-Apr-2014
Publisher: Public Library of Science (PLoS)
Abstract: Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance", being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.
Note: Reproducció del document publicat a:
It is part of: PLoS One, 2014, vol. 9, num. 4, p. e95022
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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