APC c.6965A>G ;(p.Q2322R)

Variant ID: 5-112178256-A-G

NM_000038.5(APC):c.6965A>G;(p.Q2322R)

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: APC: 6965A>G; Q2322R
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: APC: Q2322R
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
View BVdb publication page



Integrated genetic and epigenetic analysis of cancer-related genes in non-ampullary duodenal adenomas and intramucosal adenocarcinomas.

The Journal Of Pathology
Ota, Ryosuke R; Sawada, Takeshi T; Tsuyama, Sho S; Sasaki, Yasushi Y; Suzuki, Hiromu H; Kaizaki, Yasuharu Y; Hasatani, Kenkei K; Yamamoto, Eiichiro E; Nakanishi, Hiroyoshi H; Inagaki, Satoko S; Tsuji, Shigetsugu S; Yoshida, Naohiro N; Doyama, Hisashi H; Minato, Hiroshi H; Nakamura, Keishi K; Kasashima, Satomi S; Kubota, Eiji E; Kataoka, Hiromi H; Tokino, Takashi T; Yao, Takashi T; Minamoto, Toshinari T
Publication Date: 2020-11

Variant appearance in text: APC: Gln2322Arg
PubMed Link: 32770675
Variant Present in the following documents:
  • PATH-252-330-s002.xlsx, sheet 8
View BVdb publication page



Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients.

Cancer Science
Nagashima, Takeshi T; Yamaguchi, Ken K; Urakami, Kenichi K; Shimoda, Yuji Y; Ohnami, Sumiko S; Ohshima, Keiichi K; Tanabe, Tomoe T; Naruoka, Akane A; Kamada, Fukumi F; Serizawa, Masakuni M; Hatakeyama, Keiichi K; Matsumura, Kenya K; Ohnami, Shumpei S; Maruyama, Koji K; Mochizuki, Tohru T; Kusuhara, Masatoshi M; Shiomi, Akio A; Ohde, Yasuhisa Y; Terashima, Masanori M; Uesaka, Katsuhiko K; Onitsuka, Tetsuro T; Nishimura, Seiichiro S; Hirashima, Yasuyuki Y; Hayashi, Nakamasa N; Kiyohara, Yoshio Y; Tsubosa, Yasuhiro Y; Katagiri, Hirohisa H; Niwakawa, Masashi M; Takahashi, Kaoru K; Kashiwagi, Hiroya H; Nakagawa, Masahiro M; Ishida, Yuji Y; Sugino, Takashi T; Takahashi, Mitsuru M; Akiyama, Yasuto Y
Publication Date: 2020-02

Variant appearance in text: APC: Gln2322Arg
PubMed Link: 31863614
Variant Present in the following documents:
  • Main text
  • CAS-111-687.pdf
View BVdb publication page



Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Oncotarget
Nakagaki, Takafumi T; Tamura, Miyuki M; Kobashi, Kenta K; Koyama, Ryota R; Fukushima, Hisayo H; Ohashi, Tomoko T; Idogawa, Masashi M; Ogi, Kazuhiro K; Hiratsuka, Hiroyoshi H; Tokino, Takashi T; Sasaki, Yasushi Y
Publication Date: 2017-08-29

Variant appearance in text: APC: Gln2322Arg
PubMed Link: 28938622
Variant Present in the following documents:
  • oncotarget-08-59113-s006.xlsx, sheet 1
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: APC: Q2322R
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
  • emm2017142x5.xls, sheet 1
View BVdb publication page



Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Molecular Cancer
Tanabe, Yuko Y; Ichikawa, Hitoshi H; Kohno, Takashi T; Yoshida, Hiroshi H; Kubo, Takashi T; Kato, Mamoru M; Iwasa, Satoru S; Ochiai, Atsushi A; Yamamoto, Noboru N; Fujiwara, Yasuhiro Y; Tamura, Kenji K
Publication Date: 2016-11-16

Variant appearance in text: APC: Q2322R
PubMed Link: 27852271
Variant Present in the following documents:
  • 12943_2016_553_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype.

Bmc Medical Genetics
Torrezan, Giovana Tardin GT; da Silva, Felipe Cavalcanti Carneiro FC; Krepischi, Ana Cristina Victorino AC; dos Santos, Erika Maria Monteiro EM; Rossi, Benedito Mauro BM; Carraro, Dirce Maria DM
Publication Date: 2012-07-16

Variant appearance in text: APC: 6965A>G; Gln2322Arg
PubMed Link: 22799487
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-55.pdf
View BVdb publication page