A case of Turcot's syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report.

Shintaro AkabaneTakao HinoiKiwamu AkagiHideki YamamotoHaruki SadaYosuke ShimizuWataru ShimizuTakeshi SudoTakashi OnoeKohei IshiyamaTakahisa SuzukiHirofumi TazawaNaoto HadanoToshihiro MisumiMasato KojimaHaruna KubotaDaiki TaniyamaKazuya KuraokaHirotaka Tashiro

Published in: BMC medical genetics (2020)

This case supports a plausible mechanism, proposed by a previous literature, for the reduced expression of MSH6 in a somatic mutation manner, which might preferentially happen in colon cancer rather than in stomach carcinoma in MLH1/PMS2-deficient type of Turcot's syndrome type 1.

Keyphrases

systematic review
poor prognosis
copy number
case report
gene expression
long non coding rna
genome wide