MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years

• Главные авторы: Tomoyuki Momma (Автор), Kenji Gonda (Автор), Yoshinori Akama (Автор), Eisei Endo (Автор), Daisuke Ujiie (Автор), Shotaro Fujita (Автор), Yuko Maejima (Автор), Shoichiro Horita (Автор), Kenju Shimomura (Автор), Shigehira Saji (Автор), Koji Kono (Автор), Rei Yashima (Автор), Fumiaki Watanabe (Автор), Kokichi Sugano (Автор), Tadashi Nomizu (Автор)
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• Опубликовано: BMC, 2019-05-01T00:00:00Z.
• Предметы: article
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Abstract Background Lynch syndrome, is an autosomal dominantly inherited disease that predisposes individuals to a high risk of colorectal cancers, and some mismatch-repair genes have been identified as causative genes. The purpose of this study was to investigate the genomic rearrangement of the ge...