APC c.3815C>A ;(p.S1272*)

Variant ID: 5-112175106-C-A

NM_000038.5(APC):c.3815C>A;(p.S1272*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Prognostic Impact of An Integrative Landscape of Clinical, Immune, and Molecular Features in Non-Metastatic Rectal Cancer.

Frontiers In Oncology
Iseas, Soledad S; Sendoya, Juan M JM; Robbio, Juan J; Coraglio, Mariana M; Kujaruk, Mirta M; Mikolaitis, Vanesa V; Rizzolo, Mariana M; Cabanne, Ana A; Ruiz, Gonzalo G; Salanova, Rubén R; Gualdrini, Ubaldo U; Méndez, Guillermo G; Antelo, Marina M; Carballido, Marcela M; Rotondaro, Cecilia C; Viglino, Julieta J; Eleta, Martín M; Di Sibio, Alejandro A; Podhajcer, Osvaldo L OL; Roca, Enrique E; Llera, Andrea S AS; Golubicki, Mariano M; Abba, Martín Carlos MC
Publication Date: 2021

Variant appearance in text: APC: S1272*
PubMed Link: 35071006
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Patient-derived xenografts and organoids model therapy response in prostate cancer.

Nature Communications
Karkampouna, Sofia S; La Manna, Federico F; Benjak, Andrej A; Kiener, Mirjam M; De Menna, Marta M; Zoni, Eugenio E; Grosjean, Joël J; Klima, Irena I; Garofoli, Andrea A; Bolis, Marco M; Vallerga, Arianna A; Theurillat, Jean-Philippe JP; De Filippo, Maria R MR; Genitsch, Vera V; Keller, David D; Booij, Tijmen H TH; Stirnimann, Christian U CU; Eng, Kenneth K; Sboner, Andrea A; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S; Gray, Peter C PC; Spahn, Martin M; Rubin, Mark A MA; Thalmann, George N GN; Kruithof-de Julio, Marianna M
Publication Date: 2021-02-18

Variant appearance in text: APC: Ser1272*
PubMed Link: 33602919
Variant Present in the following documents:
  • 41467_2021_21300_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: APC: 3815C>A
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: APC: S1272*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: APC: S1272*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: APC: S1272*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

Scientific Reports
Khan, Nikhat N; Lipsa, Anuja A; Arunachal, Gautham G; Ramadwar, Mukta M; Sarin, Rajiv R
Publication Date: 2017-05-22

Variant appearance in text: APC: 3815C>A; S1272*
PubMed Link: 28533537
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_2319.pdf
View BVdb publication page



Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Nature Communications
Schulz, Eduard E; Klampfl, Petra P; Holzapfel, Stefanie S; Janecke, Andreas R AR; Ulz, Peter P; Renner, Wilfried W; Kashofer, Karl K; Nojima, Satoshi S; Leitner, Anita A; Zebisch, Armin A; Wölfler, Albert A; Hofer, Sybille S; Gerger, Armin A; Lax, Sigurd S; Beham-Schmid, Christine C; Steinke, Verena V; Heitzer, Ellen E; Geigl, Jochen B JB; Windpassinger, Christian C; Hoefler, Gerald G; Speicher, Michael R MR; Boland, C Richard CR; Kumanogoh, Atsushi A; Sill, Heinz H
Publication Date: 2014-10-13

Variant appearance in text: APC: S1272*
PubMed Link: 25307848
Variant Present in the following documents:
  • ncomms6191-s1.pdf
View BVdb publication page