GRODECKÁ, Lucie, Michal KRAMÁREK, Pavla LOCKEROVÁ, Tatiana KOVÁČOVÁ, Barbora RAVČUKOVÁ, Radmila RICHTEROVÁ, Kateřina KYSELOVÁ, Eva AUGSTE and Tomáš FREIBERGER. No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay. GENES CHROMOSOMES & CANCER. HOBOKEN: WILEY-BLACKWELL, 2014, vol. 53, No 9, p. 798-801. ISSN 1045-2257. doi:10.1002/gcc.22186.
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Basic information
Original name No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay
Authors GRODECKÁ, Lucie (203 Czech Republic, belonging to the institution), Michal KRAMÁREK (703 Slovakia, belonging to the institution), Pavla LOCKEROVÁ (203 Czech Republic, belonging to the institution), Tatiana KOVÁČOVÁ (703 Slovakia, belonging to the institution), Barbora RAVČUKOVÁ (203 Czech Republic), Radmila RICHTEROVÁ (203 Czech Republic), Kateřina KYSELOVÁ (203 Czech Republic), Eva AUGSTE (203 Czech Republic) and Tomáš FREIBERGER (203 Czech Republic, guarantor, belonging to the institution).
Edition GENES CHROMOSOMES & CANCER, HOBOKEN, WILEY-BLACKWELL, 2014, 1045-2257.
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 4.041
RIV identification code RIV/00216224:14740/14:00079363
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1002/gcc.22186
UT WoS 000339670200008
Keywords in English DIFFUSE GASTRIC-CANCER; E-CADHERIN; GERMLINE MUTATIONS; GENE; DISEASE
Tags EL OK, kontrola MP, MP, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Martina Prášilová, učo 342282. Changed: 17. 4. 2015 11:23.
Abstract
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.
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