Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MLH1: 175dupA; Ile59Asnfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer.

International Journal Of Clinical Oncology

Tomita, Naohiro N; Ishida, Hideyuki H; Tanakaya, Kohji K; Yamaguchi, Tatsuro T; Kumamoto, Kensuke K; Tanaka, Toshiaki T; Hinoi, Takao T; Miyakura, Yasuyuki Y; Hasegawa, Hirotoshi H; Takayama, Tetsuji T; Ishikawa, Hideki H; Nakajima, Takeshi T; Chino, Akiko A; Shimodaira, Hideki H; Hirasawa, Akira A; Nakayama, Yoshiko Y; Sekine, Shigeki S; Tamura, Kazuo K; Akagi, Kiwamu K; Kawasaki, Yuko Y; Kobayashi, Hirotoshi H; Arai, Masami M; Itabashi, Michio M; Hashiguchi, Yojiro Y; Sugihara, Kenichi K; ,

Publication Date: 2021-08

Variant appearance in text: MLH1: Ile59Asnfs

PubMed Link: 34185173

Variant Present in the following documents:

• Main text
• 10147_2021_Article_1881.pdf

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Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).

Journal Of The Anus, Rectum And Colon

Ishida, Hideyuki H; Yamaguchi, Tatsuro T; Tanakaya, Kohji K; Akagi, Kiwamu K; Inoue, Yasuhiro Y; Kumamoto, Kensuke K; Shimodaira, Hideki H; Sekine, Shigeki S; Tanaka, Toshiaki T; Chino, Akiko A; Tomita, Naohiro N; Nakajima, Takeshi T; Hasegawa, Hirotoshi H; Hinoi, Takao T; Hirasawa, Akira A; Miyakura, Yasuyuki Y; Murakami, Yoshie Y; Muro, Kei K; Ajioka, Yoichi Y; Hashiguchi, Yojiro Y; Ito, Yoshinori Y; Saito, Yutaka Y; Hamaguchi, Tetsuya T; Ishiguro, Megumi M; Ishihara, Soichiro S; Kanemitsu, Yukihide Y; Kawano, Hiroshi H; Kinugasa, Yusuke Y; Kokudo, Norihiro N; Murofushi, Keiko K; Nakajima, Takako T; Oka, Shiro S; Sakai, Yoshiharu Y; Tsuji, Akihiko A; Uehara, Keisuke K; Ueno, Hideki H; Yamazaki, Kentaro K; Yoshida, Masahiro M; Yoshino, Takayuki T; Boku, Narikazu N; Fujimori, Takahiro T; Itabashi, Michio M; Koinuma, Nobuo N; Morita, Takayuki T; Nishimura, Genichi G; Sakata, Yuh Y; Shimada, Yasuhiro Y; Takahashi, Keiichi K; Tanaka, Shinji S; Tsuruta, Osamu O; Yamaguchi, Toshiharu T; Sugihara, Kenichi K; Watanabe, Toshiaki T; ,

Publication Date: 2018

Variant appearance in text: MLH1: Ile59Asnfs*20

PubMed Link: 31773066

Variant Present in the following documents:

• Main text
• 2432-3853-2-S1.pdf

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Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice

Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,

Publication Date: 2017

Variant appearance in text: MLH1: 175dup; Ile59Asnfs*20

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.pdf

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