A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Yasue Horiuchi, Takuma Oishi, Masato Abe, Sumiko Ohnami, Akane Naruoka, Masatoshi Kusuhara, Ken Yamaguchi

ABSTRACT

Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient who had multiple colorectal cancers. Accurate diagnosis will be highly beneficial in clinical practice for surveillance and genetic counseling of patients and their relatives. More... »

PAGES

3

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0002-1

DOI

http://dx.doi.org/10.1038/s41439-018-0002-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1103608551

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29760937


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