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: 9068G>A; Gly3023Asp; rs769548726

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Monitoring of cancer patients via next-generation sequencing of patient-derived circulating tumor cells and tumor DNA.

Cancer Science

Onidani, Kaoru K; Shoji, Hirokazu H; Kakizaki, Takahiko T; Yoshimoto, Seiichi S; Okaya, Shinobu S; Miura, Nami N; Sekikawa, Shoichi S; Furuta, Koh K; Lim, Chwee Teck CT; Shibahara, Takahiko T; Boku, Narikazu N; Kato, Ken K; Honda, Kazufumi K

Publication Date: 2019-08

Variant appearance in text: ATM: G3023D

PubMed Link: 31169336

Variant Present in the following documents:

• CAS-110-2590.pdf

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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: 9068G>A; Gly3023Asp; rs769548726

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page