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: ATM: 1052A>T; D351V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: ATM: 1052A>T; Asp351Val

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Hypermutation and unique mutational signatures of occupational cholangiocarcinoma in printing workers exposed to haloalkanes.

Carcinogenesis

Mimaki, Sachiyo S; Totsuka, Yukari Y; Suzuki, Yutaka Y; Nakai, Chikako C; Goto, Masanori M; Kojima, Motohiro M; Arakawa, Hirofumi H; Takemura, Shigekazu S; Tanaka, Shogo S; Marubashi, Shigeru S; Kinoshita, Masahiko M; Matsuda, Tomonari T; Shibata, Tatsuhiro T; Nakagama, Hitoshi H; Ochiai, Atsushi A; Kubo, Shoji S; Nakamori, Shoji S; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2016-08

Variant appearance in text: ATM: D351V

PubMed Link: 27267998

Variant Present in the following documents:

• bgw066.pdf

View BVdb publication page