PIK3CA c.1048G>C ;(p.D350H)

Variant ID: 3-178921566-G-C

NM_006218.2(PIK3CA):c.1048G>C;(p.D350H)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: PIK3CA: 1048G>C; D350H
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: PIK3CA: 1048G>C; Asp350His
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
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: PIK3CA: 1048G>C; D350H
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: PIK3CA: D350H
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Brown, Noah A NA; Plouffe, Komal R KR; Yilmaz, Osman O; Weindorf, Steven C SC; Betz, Bryan L BL; Carey, Thomas E TE; Seethala, Raja R RR; McHugh, Jonathan B JB; Tomlins, Scott A SA; Udager, Aaron M AM
Publication Date: 2021-06

Variant appearance in text: PIK3CA: D350H
PubMed Link: 33203919
Variant Present in the following documents:
  • Main text
View BVdb publication page



TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Brown, Noah A NA; Plouffe, Komal R KR; Yilmaz, Osman O; Weindorf, Steven C SC; Betz, Bryan L BL; Carey, Thomas E TE; Seethala, Raja R RR; McHugh, Jonathan B JB; Tomlins, Scott A SA; Udager, Aaron M AM
Publication Date: 2021-06

Variant appearance in text: PIK3CA: D350H
PubMed Link: 33203919
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: PIK3CA: 1048G>C; D350H
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.

Plos One
Li, Guoli G; Guo, Xinwu X; Chen, Ming M; Tang, Lili L; Jiang, Hui H; Day, Julia X JX; Xie, Yueliang Y; Peng, Limin L; Xu, Xunxun X; Li, Jinliang J; Wang, Shouman S; Xiao, Zhi Z; Dai, Lizhong L; Wang, Jun J
Publication Date: 2018

Variant appearance in text: PIK3CA: 1048G>C; D350H
PubMed Link: 30212483
Variant Present in the following documents:
  • pone.0203495.s001.pdf
  • pone.0203495.s004.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.

The Oncologist
Johnson, Adrienne A; Severson, Eric E; Gay, Laurie L; Vergilio, Jo-Anne JA; Elvin, Julia J; Suh, James J; Daniel, Sugganth S; Covert, Mandy M; Frampton, Garrett M GM; Hsu, Sigmund S; Lesser, Glenn J GJ; Stogner-Underwood, Kimberly K; Mott, Ryan T RT; Rush, Sarah Z SZ; Stanke, Jennifer J JJ; Dahiya, Sonika S; Sun, James J; Reddy, Prasanth P; Chalmers, Zachary R ZR; Erlich, Rachel R; Chudnovsky, Yakov Y; Fabrizio, David D; Schrock, Alexa B AB; Ali, Siraj S; Miller, Vincent V; Stephens, Philip J PJ; Ross, Jeffrey J; Crawford, John R JR; Ramkissoon, Shakti H SH
Publication Date: 2017-12

Variant appearance in text: PIK3CA: D350H
PubMed Link: 28912153
Variant Present in the following documents:
  • Main text
  • onco12246.pdf
View BVdb publication page



Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications
Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ
Publication Date: 2017-05-11

Variant appearance in text: PI3K: D350H
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PIK3CA: D350H
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page