PTEN c.757dup ;(p.I253Nfs*45)

Variant ID: 10-89717731-T-TA

NM_000314.4(PTEN):c.757dup;(p.I253Nfs*45)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PTEN: 757dup; Ile253fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: rs1114167661
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
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Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer.

Cancer Genomics & Proteomics
Nikolaidi, Adamantia A; Kotoula, Vassiliki V; Koliou, Georgia-Angeliki GA; Giannoulatou, Eleni E; Papadopoulou, Kyriaki K; Zagouri, Flora F; Pentheroudakis, George G; Gogas, Helen H; Bobos, Mattheos M; Chatzopoulos, Kyriakos K; Oikonomopoulos, Georgios G; Pectasides, Dimitrios D; Saloustros, Emmanouil E; Arnogiannaki, Niki N; Nicolaou, Irene I; Papakostas, Pavlos P; Bompolaki, Iliada I; Aravantinos, Gerasimos G; Athanasiadis, Ilias I; Fountzilas, George G
Publication Date: 2020

Variant appearance in text: PTEN: 756_757insA
PubMed Link: 32108041
Variant Present in the following documents:
  • Main text
View BVdb publication page