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.

doi:10.1186/s12881-020-01079-x

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Article

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.

BMC medical genetics - 1 Jul 2020

Akabane Shintaro, Hinoi Takao, Akagi Kiwamu, Yamamoto Hideki, Sada Haruki, Shimizu Yosuke, Shimizu Wataru, Sudo Takeshi, Onoe Takashi, Ishiyama Kohei, Suzuki Takahisa, Tazawa Hirofumi, Hadano Naoto, Misumi Toshihiro, Kojima Masato, Kubota Haruna, Taniyama Daiki, Kuraoka Kazuya, Tashiro Hirotaka

Abstract excerpt

BACKGROUND: Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding region. Immunohistochemical staining (IHC) of DNA mismatch repair (MMR) proteins (e.g., MLH1, MSH2, MSH6, and PMS2) has been recognized as an useful technique for screening of LS. Previous study...

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PMID: 32611331
DOI: 10.1186/s12881-020-01079-x
PMCID: PMC7345515

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