APC c.1090G>A ;(p.D364N)

Variant ID: 5-112154819-G-A

NM_000038.5(APC):c.1090G>A;(p.D364N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: APC: D364N; rs1483264315
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: APC: D364N
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Precision cancer genome testing needs proficiency testing involving all stakeholders.

Scientific Reports
Maekawa, Masato M; Taniguchi, Terumi T; Nishio, Kazuto K; Sakai, Kazuko K; Matsushita, Kazuyuki K; Nakatani, Kaname K; Ishige, Takayuki T; Ikejiri, Makoto M; Nishihara, Hiroshi H; Sunami, Kuniko K; Yatabe, Yasushi Y; Hatanaka, Kanako C KC; Hatanaka, Yutaka Y; Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Oda, Shinya S; Saito, Kayoko K; Yokomura, Mamoru M; Kubo, Yuji Y; Sato, Hiroko H; Tanaka, Yoshinori Y; Fuchioka, Misa M; Yamasaki, Tadashi T; Matsuda, Koichiro K; Kurachi, Kiyotaka K; Funai, Kazuhiro K; Baba, Satoshi S; Iwaizumi, Moriya M
Publication Date: 2022-01-27

Variant appearance in text: APC: 1090G>A
PubMed Link: 35087199
Variant Present in the following documents:
  • 41598_2022_5589_MOESM1_ESM.pdf
View BVdb publication page



Precision cancer genome testing needs proficiency testing involving all stakeholders.

Scientific Reports
Maekawa, Masato M; Taniguchi, Terumi T; Nishio, Kazuto K; Sakai, Kazuko K; Matsushita, Kazuyuki K; Nakatani, Kaname K; Ishige, Takayuki T; Ikejiri, Makoto M; Nishihara, Hiroshi H; Sunami, Kuniko K; Yatabe, Yasushi Y; Hatanaka, Kanako C KC; Hatanaka, Yutaka Y; Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Oda, Shinya S; Saito, Kayoko K; Yokomura, Mamoru M; Kubo, Yuji Y; Sato, Hiroko H; Tanaka, Yoshinori Y; Fuchioka, Misa M; Yamasaki, Tadashi T; Matsuda, Koichiro K; Kurachi, Kiyotaka K; Funai, Kazuhiro K; Baba, Satoshi S; Iwaizumi, Moriya M
Publication Date: 2022-01-27

Variant appearance in text: APC: 1090G>A
PubMed Link: 35087199
Variant Present in the following documents:
  • 41598_2022_5589_MOESM1_ESM.pdf
View BVdb publication page



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: APC: D364N
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_1.xlsx, sheet 6
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: APC: 1090G>A; D364N
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: APC: D364N
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page