PTEN c.686C>A ;(p.S229*)

Variant ID: 10-89717661-C-A

NM_000314.4(PTEN):c.686C>A;(p.S229*)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Liquid biopsy of cerebrospinal fluid enables selective profiling of glioma molecular subtypes at first clinical presentation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Orzan, Francesca F; De Bacco, Francesca F; Lazzarini, Elisabetta E; Crisafulli, Giovanni G; Gasparini, Alessandra A; Dipasquale, Angelo A; Barault, Ludovic L; Macagno, Marco M; Persico, Pasquale P; Pessina, Federico F; Bono, Beatrice B; Giordano, Laura L; Zeppa, Pietro P; Melcarne, Antonio A; Cassoni, Paola P; Garbossa, Diego D; Santoro, Armando A; Comoglio, Paolo M PM; Indraccolo, Stefano S; Simonelli, Matteo M; Boccaccio, Carla C
Publication Date: 2023-01-17

Variant appearance in text: PTEN: 686C>A; S229*
PubMed Link: 36648487
Variant Present in the following documents:
  • ccr-22-2903_supplementary_data_2_suppds2.xlsx, sheet 2
  • ccr-22-2903_supplementary_information_1_suppms1.pdf
View BVdb publication page



Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Publication Date: 2022-12-05

Variant appearance in text: PTEN: S229*
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: PTEN: S229*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: PTEN: 686C>A; S229*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.

Scientific Reports
Zaki, Mark M MM; Mashouf, Leila A LA; Woodward, Eleanor E; Langat, Pinky P; Gupta, Saksham S; Dunn, Ian F IF; Wen, Patrick Y PY; Nahed, Brian V BV; Bi, Wenya Linda WL
Publication Date: 2021-09-09

Variant appearance in text: PTEN: S229*
PubMed Link: 34504233
Variant Present in the following documents:
  • Main text
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: PTEN: 686C>A; S229*
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: N/A
PubMed Link: 33314633
Variant Present in the following documents:
View BVdb publication page



Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI
Publication Date: 2020

Variant appearance in text: PTEN: S229*
PubMed Link: 33237934
Variant Present in the following documents:
  • pone.0242793.s003.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: PTEN: S229*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Polymicrogyria is Associated With Pathogenic Variants in PTEN.

Annals Of Neurology
Shao, Diane D DD; Achkar, Christelle M CM; Lai, Abbe A; Srivastava, Siddharth S; Doan, Ryan N RN; Rodan, Lance H LH; Chen, Allen Y AY; , ; Poduri, Annapurna A; Yang, Edward E; Walsh, Christopher A CA
Publication Date: 2020-12

Variant appearance in text: PTEN: 686C>A; Ser229Ter
PubMed Link: 32959437
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Profiling Identifies Outcome-Relevant Mechanisms of Innate and Acquired Resistance to Third-Generation Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor Therapy in Lung Cancer.

Jco Precision Oncology
Michels, Sebastian S; Heydt, Carina C; van Veggel, Bianca B; Deschler-Baier, Barbara B; Pardo, Nuria N; Monkhorst, Kim K; Rüsseler, Vanessa V; Stratmann, Jan J; Griesinger, Frank F; Steinhauser, Susanne S; Kostenko, Anna A; Diebold, Joachim J; Fassunke, Jana J; Fischer, Rieke R; Engel-Riedel, Walburga W; Gautschi, Oliver O; Geissinger, Eva E; Haneder, Stefan S; Ihle, Michaela A MA; Kopp, Hans-Georg HG; de Langen, Adrianus J AJ; Martinez-Marti, Alex A; Nogova, Lucia L; Persigehl, Thorsten T; Plenker, Dennis D; Puesken, Michael M; Rodermann, Ernst E; Rosenwald, Andreas A; Scheel, Andreas H AH; Scheffler, Matthias M; Spengler, Werner W; Seggewiss-Bernhardt, Ruth R; Brägelmann, Johannes J; Sebastian, Martin M; Vrugt, Bart B; Hellmich, Martin M; Sos, Martin L ML; Heukamp, Lukas C LC; Felip, Enriqueta E; Merkelbach-Bruse, Sabine S; Smit, Egbert F EF; Büttner, Reinhard R; Wolf, Jürgen J
Publication Date: 2019

Variant appearance in text: PTEN: S229*
PubMed Link: 32914023
Variant Present in the following documents:
  • Main text
  • PO.18.00210.pdf
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: PTEN: S229*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PTEN: S229*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Patient-derived lung cancer organoids as in vitro cancer models for therapeutic screening.

Nature Communications
Kim, Minsuh M; Mun, Hyemin H; Sung, Chang Oak CO; Cho, Eun Jeong EJ; Jeon, Hye-Joon HJ; Chun, Sung-Min SM; Jung, Da Jung DJ; Shin, Tae Hoon TH; Jeong, Gi Seok GS; Kim, Dong Kwan DK; Choi, Eun Kyung EK; Jeong, Seong-Yun SY; Taylor, Alison M AM; Jain, Sejal S; Meyerson, Matthew M; Jang, Se Jin SJ
Publication Date: 2019-09-05

Variant appearance in text: PTEN: 686C>A; S229*
PubMed Link: 31488816
Variant Present in the following documents:
  • 41467_2019_11867_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



PIK3CA Mutations Contribute to Acquired Cetuximab Resistance in Patients with Metastatic Colorectal Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xu, Jian-Ming JM; Wang, Yan Y; Wang, You-Liang YL; Wang, Yan Y; Liu, Tao T; Ni, Ming M; Li, Man-Sheng MS; Lin, Li L; Ge, Fei-Jiao FJ; Gong, Chun C; Gu, Jun-Yan JY; Jia, Ru R; Wang, He-Fei HF; Chen, Yu-Ling YL; Liu, Rong-Rui RR; Zhao, Chuan-Hua CH; Tan, Zhao-Li ZL; Jin, Yang Y; Zhu, Yun-Ping YP; Ogino, Shuji S; Qian, Zhi-Rong ZR
Publication Date: 2017-08-15

Variant appearance in text: PTEN: 686C>A
PubMed Link: 28424201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.

Oncotarget
Kaderbhai, Coureche Guillaume CG; Boidot, Romain R; Beltjens, Françoise F; Chevrier, Sandy S; Arnould, Laurent L; Favier, Laure L; Lagrange, Aurélie A; Coudert, Bruno B; Ghiringhelli, François F
Publication Date: 2016-04-26

Variant appearance in text: PTEN: S229X
PubMed Link: 27027238
Variant Present in the following documents:
  • Main text
  • oncotarget-07-24860.pdf
View BVdb publication page



Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Gastroenterology
Heald, Brandie B; Mester, Jessica J; Rybicki, Lisa L; Orloff, Mohammed S MS; Burke, Carol A CA; Eng, Charis C
Publication Date: 2010-12

Variant appearance in text: N/A
PubMed Link: 20600018
Variant Present in the following documents:
View BVdb publication page