PIK3CA c.1366_1368del ;(p.L456del)

Variant ID: 3-178928085-TTGC-T

NM_006218.2(PIK3CA):c.1366_1368del;(p.L456del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.

Hgg Advances
Koutlas, Ioannis G IG; Anbinder, Ana-Lia AL; Alshagroud, Rana R; Rodrigues Cavalcante, Ana Sueli AS; Al Kindi, Mohammed M; Crenshaw, Molly M MM; Sapp, Julie C JC; Kondolf, Hannah H; Lindhurst, Marjorie J MJ; Dudley, Jeffrey N JN; Johnston, Jennifer J JJ; Ryan, Elyse E; Rafferty, Keith K; Ganguly, Arupa A; Biesecker, Leslie G LG
Publication Date: 2020-10-22

Variant appearance in text: PIK3CA: Leu456del
PubMed Link: 35047831
Variant Present in the following documents:
  • main.pdf
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: L456del
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Safety and efficacy of sirolimus combined with endocrine therapy in patients with advanced hormone receptor-positive breast cancer and the exploration of biomarkers.

Breast (Edinburgh, Scotland)
Yi, Zongbi Z; Liu, Binliang B; Sun, Xiaoying X; Rong, Guohua G; Wang, Wenna W; Li, Hui H; Guan, Xiuwen X; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Qian, Haili H; Ma, Fei F; Xu, Binghe B
Publication Date: 2020-08

Variant appearance in text: PIK3CA: L456del
PubMed Link: 32335491
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Scientific Reports
Kaur, Pushpinder P; Porras, Tania B TB; Ring, Alexander A; Carpten, John D JD; Lang, Julie E JE
Publication Date: 2019-02-06

Variant appearance in text: PIK3CA: L455del
PubMed Link: 30728399
Variant Present in the following documents:
  • 41598_2018_37574_MOESM1_ESM.pdf
View BVdb publication page