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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F14%3A00079363" target="_blank" >RIV/00216224:14740/14:00079363 - isvavai.cz</a>

Result on the web

<a href="http://onlinelibrary.wiley.com/doi/10.1002/gcc.22186/epdf" target="_blank" >http://onlinelibrary.wiley.com/doi/10.1002/gcc.22186/epdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/gcc.22186" target="_blank" >10.1002/gcc.22186</a>

Result language

angličtina

Original language name

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

Original language description

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; Berxet 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 splicingaffection by a muta- tion c.2440-6C&gt;G found in a patient diagnosed with HDGC has recently been reported in this journal (Molinaro et al., 2014).

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

GENES CHROMOSOMES &amp; CANCER

ISSN

1045-2257

e-ISSN

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Volume of the periodical

53

Issue of the periodical within the volume

9

Country of publishing house

US - UNITED STATES

Number of pages

4

Pages from-to

798-801

UT code for WoS article

000339670200008

EID of the result in the Scopus database

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