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

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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; 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).
  • 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). (en)
Title
  • No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay
  • No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay (en)
skos:prefLabel
  • No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay
  • No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay (en)
skos:notation
  • RIV/00216224:14740/14:00079363!RIV15-MSM-14740___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I
http://linked.open...iv/cisloPeriodika
  • 9
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
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http://linked.open...dnocenehoVysledku
  • 32675
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14740/14:00079363
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • DIFFUSE GASTRIC-CANCER; E-CADHERIN; GERMLINE MUTATIONS; GENE; DISEASE (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [FB1D26F1A10C]
http://linked.open...i/riv/nazevZdroje
  • GENES CHROMOSOMES & CANCER
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 53
http://linked.open...iv/tvurceVysledku
  • Freiberger, Tomáš
  • Ravčuková, Barbora
  • Richterová, Radmila
  • Grodecká, Lucie
  • Lockerová, Pavla
  • Augste, Eva
  • Kováčová, Tatiana
  • Kramárek, Michal
  • Kyselová, Kateřina
http://linked.open...ain/vavai/riv/wos
  • 000339670200008
issn
  • 1045-2257
number of pages
http://bibframe.org/vocab/doi
  • 10.1002/gcc.22186
http://localhost/t...ganizacniJednotka
  • 14740
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