Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-12-12

AUTHORS

Taro Funakoshi, Shin’ichi Miyamoto, Nobuyuki Kakiuchi, Mitsuhiro Nikaido, Takeshi Setoyama, Akira Yokoyama, Takahiro Horimatsu, Atsushi Yamada, Masako Torishima, Shinji Kosugi, Hidetaka Yamada, Haruhiko Sugimura, Hironori Haga, Yoshiharu Sakai, Seishi Ogawa, Hiroshi Seno, Manabu Muto, Tsutomu Chiba

ABSTRACT

Germline mutations in CDH1, encoding E-cadherin, are known to be the causative mechanism of hereditary diffuse gastric cancer (HDGC). We encountered two cases of gastric cancer in a Japanese family with HDGC. A 28-year-old man (Case 1) died of advanced gastric cancer. His younger sister aged 27 (Case 2) was diagnosed with intramucosal signet ring cell carcinoma (SRCC). Both had identical germline CDH1 mutations, but Case 1 was positive for Helicobacter pylori infection, whereas Case 2 was negative. Case 2 underwent total gastrectomy. Whole-exome sequencing of an intramucosal SRCC in Case 2 revealed seven somatic mutations including one in CDH1. The six non-CDH1 mutations were classified as non-driver mutations. Decreased expression of E-cadherin in intramucosal SRCC was confirmed by immunohistochemistry. Our report demonstrated that CDH1 mutation was the only active driver mutation in Helicobacter pylori-uninfected intramucosal SRCC. More... »

PAGES

1-7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10120-018-00912-w

DOI

http://dx.doi.org/10.1007/s10120-018-00912-w

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1110555869

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30542785


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s10120-018-00912-w'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10120-018-00912-w'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10120-018-00912-w'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10120-018-00912-w'


 

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