Informace o publikaci

No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay

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GRODECKÁ Lucie KRAMÁREK Michal LOCKEROVÁ Pavla KOVÁČOVÁ Tatiana RAVČUKOVÁ Barbora RICHTEROVÁ Radmila KYSELOVÁ Kateřina AUGSTE Eva FREIBERGER Tomáš

Rok publikování 2014
Druh Článek v odborném periodiku
Časopis / Zdroj GENES CHROMOSOMES & CANCER
Fakulta / Pracoviště MU

Středoevropský technologický institut

Citace
www http://onlinelibrary.wiley.com/doi/10.1002/gcc.22186/epdf
Doi http://dx.doi.org/10.1002/gcc.22186
Obor Genetika a molekulární biologie
Klíčová slova DIFFUSE GASTRIC-CANCER; E-CADHERIN; GERMLINE MUTATIONS; GENE; DISEASE
Přiložené soubory
Popis Dominantly inherited diffuse gastric cancer (HDGC) syndrome caused by germline mutations in the CDH1 gene predisposes patients to the development of diffuse gastric cancer (DGC) and lobular breast cancer (LBC; Guilford et al., 1999; Pharoah et al., 2001). Although mutations in CDH1 play a major role in the development of these types of cancers, about 50% of sporadic DGC and LBC cases are caused by other somatic inactivation mechanisms of the CDH 1 gene, or associated proteins (Becker et al., 1994; Berx et al., 1996). Alt hough most somatic mutations in sporadic DGC cause exon 8 and 9 skipping, germ- line mutations span the whole length of the gene and show no major mutational hotspot (Berx et al., 1998; Corso et al., 2012). An investigation on splicing affection by a muta- tion c.2440-6C>G found in a patient diagnosed with HDGC has recently been reported in this journal (Molinaro et al., 2014). The authors dem- onstrated that RT-PCR on RNA from peripheral blood cells did not detect any aberrant mRNA. Furthermore, they did not find evidence of any significant allelic imbalance in CDH1 expression in this patie nt. These results are in disagreement with a previously published report on a different patient carrying the same intronic mutation (More et al., 2007). In that publication, the RT-PCR results from patient’s blood RNA showed the pres- ence of an aberrant transcript.