Publications:

Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Fujitani, Hiroo H; Eguchi, Hidetaka H; Kochi, Yuta Y; Arai, Tomio T; Muramatsu, Masaaki M; Okazaki, Yasushi Y

Publication Date: 2023-03-02

Variant appearance in text: ATM: 5108T>C; Phe1703Ser; rs772376652

PubMed Link: 36896836

Variant Present in the following documents:

• ejcp-32-286-s003.pdf

View BVdb publication page

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: 5108T>C; Phe1703Ser; rs772376652

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: 5108T>C; Phe1703Ser; rs772376652

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page