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2014-04-17

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cc-by (c) Abulí, Anna et al., 2014
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/122275

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.

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https://doi.org/10.1371/journal.pone.0095022

Resum

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.

Matèries

Càncer colorectal, Genètica molecular, Malalties hereditàries, Epidemiologia

Matèries (anglès)

Colorectal cancer, Molecular genetics, Genetic diseases, Epidemiology

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Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

ABULÍ, Anna, BUJANDA, Luis, MUÑOZ, Jenifer, BUCH, Stephan, SCHAFMAYER, Clemens, 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. The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.. _PLoS One_. 2014. Vol. 9, núm. 4, pàgs. e95022. [consulta: 1 de febrer de 2026]. ISSN: 1932-6203. [Disponible a: https://hdl.handle.net/2445/122275]

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