PTEN c.565A>T ;(p.R189*)

Variant ID: 10-89711947-A-T

NM_000314.4(PTEN):c.565A>T;(p.R189*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinic and genetic similarity assessments of atypical carcinoid, neuroendocrine neoplasm with atypical carcinoid morphology and elevated mitotic count and large cell neuroendocrine carcinoma.

Bmc Cancer
Zhang, Ying Y; Wang, Weiya W; Hu, Qianrong Q; Liang, Zuoyu Z; Zhou, Ping P; Tang, Yuan Y; Jiang, Lili L
Publication Date: 2022-03-24

Variant appearance in text: PTEN: 565A>T; R189X
PubMed Link: 35331190
Variant Present in the following documents:
  • 12885_2022_9391_MOESM1_ESM.pdf
View BVdb publication page



Multi-omic machine learning predictor of breast cancer therapy response.

Nature
Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C
Publication Date: 2022-01

Variant appearance in text: PTEN: 565A>T
PubMed Link: 34875674
Variant Present in the following documents:
  • 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Claudin-low-like mouse mammary tumors show distinct transcriptomic patterns uncoupled from genomic drivers.

Breast Cancer Research : Bcr
Fougner, Christian C; Bergholtz, Helga H; Kuiper, Raoul R; Norum, Jens Henrik JH; Sørlie, Therese T
Publication Date: 2019-07-31

Variant appearance in text: PTEN: Arg189*
PubMed Link: 31366361
Variant Present in the following documents:
  • 13058_2019_1170_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Oncoscience
Yakubov, Eduard E; Ghoochani, Ali A; Buslei, Rolf R; Buchfelder, Michael M; Eyüpoglu, Ilker Y IY; Savaskan, Nicolai N
Publication Date: 2016

Variant appearance in text: PTEN: 565A>T
PubMed Link: 27489861
Variant Present in the following documents:
  • oncoscience-03-149-s001.pdf
View BVdb publication page



PTEN C-terminal deletion causes genomic instability and tumor development.

Cell Reports
Sun, Zhuo Z; Huang, Chuanxin C; He, Jinxue J; Lamb, Kristy L KL; Kang, Xi X; Gu, Tingting T; Shen, Wen Hong WH; Yin, Yuxin Y
Publication Date: 2014-03-13

Variant appearance in text: PTEN: 565A>T
PubMed Link: 24561254
Variant Present in the following documents:
  • Main text
View BVdb publication page



Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

Human Molecular Genetics
He, Xin X; Ni, Ying Y; Wang, Yu Y; Romigh, Todd T; Eng, Charis C
Publication Date: 2011-01-01

Variant appearance in text: PTEN: R189X
PubMed Link: 20926450
Variant Present in the following documents:
  • Main text
  • ddq434.pdf
View BVdb publication page



Germline PTEN mutations are rare and highly penetrant.

Hereditary Cancer In Clinical Practice
Rustad, Cecilie F CF; Bjørnslett, Merete M; Heimdal, Ketil R KR; Mæhle, Lovise L; Apold, Jaran J; Møller, Pål P
Publication Date: 2006-12-15

Variant appearance in text: PTEN: 565A>T
PubMed Link: 20223021
Variant Present in the following documents:
  • Main text
  • 1897-4287-4-4-177.pdf
View BVdb publication page