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

• Autores principales: Tomoyuki Momma (Autor), Kenji Gonda (Autor), Yoshinori Akama (Autor), Eisei Endo (Autor), Daisuke Ujiie (Autor), Shotaro Fujita (Autor), Yuko Maejima (Autor), Shoichiro Horita (Autor), Kenju Shimomura (Autor), Shigehira Saji (Autor), Koji Kono (Autor), Rei Yashima (Autor), Fumiaki Watanabe (Autor), Kokichi Sugano (Autor), Tadashi Nomizu (Autor)
• Formato: Libro
• Publicado: BMC, 2019-05-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

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...