Publications:

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: ATM: 3077+1G>T

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: ATM: 3077+1G>T; rs192810283

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 1

View BVdb publication page

Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Scientific Reports

Rawat, Amit A; Tyagi, Rahul R; Chaudhary, Himanshi H; Pandiarajan, Vignesh V; Jindal, Ankur Kumar AK; Suri, Deepti D; Gupta, Anju A; Sharma, Madhubala M; Arora, Kanika K; Bal, Amanjit A; Madaan, Priyanka P; Saini, Lokesh L; Sahu, Jitendra Kumar JK; Ogura, Yumi Y; Kato, Tamaki T; Imai, Kohsuke K; Nonoyama, Shigeaki S; Singh, Surjit S

Publication Date: 2022-03-08

Variant appearance in text: ATM: 3077+1G>T

PubMed Link: 35260754

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8019.pdf

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: 3077+1G>T; rs192810283

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Oncotarget

Huang, Dong-Sheng DS; Tao, Hou-Quan HQ; He, Xu-Jun XJ; Long, Ming M; Yu, Sheng S; Xia, Ying-Jie YJ; Wei, Zhang Z; Xiong, Zikai Z; Jones, Sian S; He, Yiping Y; Yan, Hai H; Wang, Xiaoyue X

Publication Date: 2015-12-01

Variant appearance in text: ATM: 3077+1G>T

PubMed Link: 26506520

Variant Present in the following documents:

• oncotarget-06-40953-s001.pdf

View BVdb publication page