ATM c.5369A>G ;(p.D1790G)

Variant ID: 11-108173629-A-G

NM_000051.3(ATM):c.5369A>G;(p.D1790G)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: ATM: 5369A>G; D1790G
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.

Cancer Research And Treatment
Kim, Ju Won JW; Kang, Hyo Eun HE; Choi, Jimi J; Yun, Seung Gyu SG; Jung, Seung Pil SP; Bae, Soo Yeon SY; You, Ji Young JY; Choi, Yoon-Ji YJ; Kim, Yeul Hong YH; Park, Kyong Hwa KH
Publication Date: 2022-06-08

Variant appearance in text: ATM: 5369A>G; D1790G
PubMed Link: 35681111
Variant Present in the following documents:
  • crt-2021-1567-S3-Table.pdf
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: ATM: 5369A>G; D1790G; rs746945284
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports
Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O
Publication Date: 2021-07-20

Variant appearance in text: ATM: 5369A>G; Asp1790Gly
PubMed Link: 34285288
Variant Present in the following documents:
  • 41598_2021_94292_MOESM1_ESM.xlsx, sheet 2
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: 5369A>G; D1790G; rs746945284
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Cancer Research And Treatment
Choi, Min Chul MC; Hwang, Sohyun S; Kim, Sewha S; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Tae-Heon TH; Kang, Haeyoun H; An, Hee Jung HJ
Publication Date: 2020-04

Variant appearance in text: ATM: 5369A>G
PubMed Link: 32019284
Variant Present in the following documents:
  • crt-2019-207-suppl2.pdf
  • crt-2019-207-suppl3.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: 5369A>G; Asp1790Gly; rs746945284
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



The LIN28B-IMP1 post-transcriptional regulon has opposing effects on oncogenic signaling in the intestine.

Genes & Development
Chatterji, Priya P; Hamilton, Kathryn E KE; Liang, Shun S; Andres, Sarah F SF; Wijeratne, H R Sagara HRS; Mizuno, Rei R; Simon, Lauren A LA; Hicks, Philip D PD; Foley, Shawn W SW; Pitarresi, Jason R JR; Klein-Szanto, Andres J AJ; Mah, Amanda T AT; Van Landeghem, Laurianne L; Gregory, Brian D BD; Lengner, Christopher J CJ; Madison, Blair B BB; Shah, Premal P; Rustgi, Anil K AK
Publication Date: 2018-08-01

Variant appearance in text: ATM: D1790G
PubMed Link: 30068703
Variant Present in the following documents:
  • supp_32.15-16.1020_Supplemental_Table_S10.xls, sheet 1
View BVdb publication page