PTEN c.804C>A ;(p.D268E)

Variant ID: 10-89720653-C-A

NM_000314.4(PTEN):c.804C>A;(p.D268E)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: PTEN: D268E
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs398123328
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
View BVdb publication page



Mutation analysis of circulating tumor DNA and paired ascites and tumor tissues in ovarian cancer.

Experimental And Therapeutic Medicine
Jie, Xiaoxiang X; Du, Ming M; Zhang, Meng M; Jin, Xiayu X; Cai, Qingqing Q; Xu, Congjian C; Zhang, Xiaoyan X
Publication Date: 2022-09

Variant appearance in text: PTEN: D268E
PubMed Link: 35978934
Variant Present in the following documents:
  • Main text
  • etm-24-03-11479.pdf
View BVdb publication page



Comprehensive genomic profiling of Finnish lung adenocarcinoma cohort reveals high clinical actionability and SMARCA4 altered tumors with variable histology and poor prognosis.

Neoplasia (New York, N.Y.)
Talvitie, Eva-Maria EM; Liljeroos, Lassi L; Vilhonen, Heikki H; Orte, Katri K; Leivo, Ilmo I; Kallajoki, Markku M; Taimen, Pekka P
Publication Date: 2022-10

Variant appearance in text: PTEN: Asp268Glu
PubMed Link: 35964518
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: rs398123328
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs398123328
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs398123328
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer
Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M
Publication Date: 2021-07

Variant appearance in text: PTEN: 804C>A; Asp268Glu; rs398123328
PubMed Link: 34315821
Variant Present in the following documents:
  • jitc-2021-002844supp002.xlsx, sheet 1
View BVdb publication page



Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International Journal Of Molecular Sciences
Grzywa, Tomasz M TM; Koppolu, Agnieszka A AA; Paskal, Wiktor W; Klicka, Klaudia K; Rydzanicz, Małgorzata M; Wejman, Jarosław J; Płoski, Rafał R; Włodarski, Paweł K PK
Publication Date: 2021-04-09

Variant appearance in text: PTEN: 804C>A; Asp268Glu
PubMed Link: 33918692
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: PTEN: 804C>A; D268E; rs398123328
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Mesonephric-Like Adenocarcinoma of the Endometrium: Diagnostic Advances to Spot This Wolf in Sheep's Clothing. A Review of the Literature.

Journal Of Clinical Medicine
Deolet, Ellen E; Van Dorpe, Jo J; Van de Vijver, Koen K
Publication Date: 2021-02-11

Variant appearance in text: PTEN: D268E
PubMed Link: 33670088
Variant Present in the following documents:
  • Main text
  • jcm-10-00698.pdf
View BVdb publication page



Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Breast Cancer Research : Bcr
Priedigkeit, Nolan N; Ding, Kai K; Horne, William W; Kolls, Jay K JK; Du, Tian T; Lucas, Peter C PC; Blohmer, Jens-Uwe JU; Denkert, Carsten C; Machleidt, Anna A; Ingold-Heppner, Barbara B; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2021-01-06

Variant appearance in text: PTEN: D268E; rs398123328
PubMed Link: 33407744
Variant Present in the following documents:
  • 13058_2020_1379_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.

American Journal Of Human Genetics
Mighell, Taylor L TL; Thacker, Stetson S; Fombonne, Eric E; Eng, Charis C; O'Roak, Brian J BJ
Publication Date: 2020-06-04

Variant appearance in text: PTEN: 804C>A; Asp268Glu
PubMed Link: 32442409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications
Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K
Publication Date: 2020-04-29

Variant appearance in text: PTEN: D268E
PubMed Link: 32350270
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15943.pdf
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: PTEN: Asp268Glu; rs398123328
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Comprehensive pharmacogenomic characterization of gastric cancer.

Genome Medicine
Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J
Publication Date: 2020-02-18

Variant appearance in text: PTEN: D268E
PubMed Link: 32070411
Variant Present in the following documents:
  • 13073_2020_717_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One
Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND
Publication Date: 2019

Variant appearance in text: PTEN: 804C>A; D268E
PubMed Link: 31415627
Variant Present in the following documents:
  • Main text
  • pone.0220929.pdf
View BVdb publication page



Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.

Cellular And Molecular Life Sciences : Cmls
Keup, Corinna C; Benyaa, Karim K; Hauch, Siegfried S; Sprenger-Haussels, Markus M; Tewes, Mitra M; Mach, Pawel P; Bittner, Ann-Kathrin AK; Kimmig, Rainer R; Hahn, Peter P; Kasimir-Bauer, Sabine S
Publication Date: 2020-02

Variant appearance in text: PTEN: 804C>A; D268E
PubMed Link: 31254045
Variant Present in the following documents:
  • 18_2019_3189_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mutational landscape of gastric cancer and clinical application of genomic profiling based on target next-generation sequencing.

Journal Of Translational Medicine
Cai, Hui H; Jing, Changqing C; Chang, Xusheng X; Ding, Dan D; Han, Ting T; Yang, Junchi J; Lu, Zhengmao Z; Hu, Xuguang X; Liu, Zhaorui Z; Wang, Jinshen J; Shang, Liang L; Wu, Shouxin S; Meng, Peng P; Lin, Ling L; Zhao, Jiangman J; Nie, Mingming M; Yin, Kai K
Publication Date: 2019-06-04

Variant appearance in text: PTEN: D268E
PubMed Link: 31164161
Variant Present in the following documents:
  • 12967_2019_1941_MOESM2_ESM.pdf
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: PTEN: 804C>A; D268E; rs398123328
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinicopathologic and Molecular Characteristics of Mesonephric Adenocarcinoma Arising From the Uterine Body.

The American Journal Of Surgical Pathology
Na, Kiyong K; Kim, Hyun-Soo HS
Publication Date: 2019-01

Variant appearance in text: PTEN: D268E
PubMed Link: 29189288
Variant Present in the following documents:
  • Main text
  • pas-43-12.pdf
View BVdb publication page



Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports
Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA
Publication Date: 2017-08-29

Variant appearance in text: PTEN: D268E
PubMed Link: 28852190
Variant Present in the following documents:
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: PTEN: D268E
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: PTEN: 804C>A; D268E
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports
Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V
Publication Date: 2017-03-03

Variant appearance in text: PTEN: D268E
PubMed Link: 28256603
Variant Present in the following documents:
  • srep42980-s2.xls, sheet 7
View BVdb publication page



Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

Nature Communications
De Mattos-Arruda, Leticia L; Mayor, Regina R; Ng, Charlotte K Y CKY; Weigelt, Britta B; Martínez-Ricarte, Francisco F; Torrejon, Davis D; Oliveira, Mafalda M; Arias, Alexandra A; Raventos, Carolina C; Tang, Jiabin J; Guerini-Rocco, Elena E; Martínez-Sáez, Elena E; Lois, Sergio S; Marín, Oscar O; de la Cruz, Xavier X; Piscuoglio, Salvatore S; Towers, Russel R; Vivancos, Ana A; Peg, Vicente V; Ramon y Cajal, Santiago S; Carles, Joan J; Rodon, Jordi J; González-Cao, María M; Tabernero, Josep J; Felip, Enriqueta E; Sahuquillo, Joan J; Berger, Michael F MF; Cortes, Javier J; Reis-Filho, Jorge S JS; Seoane, Joan J
Publication Date: 2015-11-10

Variant appearance in text: PTEN: D268E
PubMed Link: 26554728
Variant Present in the following documents:
  • ncomms9839-s1.pdf
  • ncomms9839-s3.xlsx, sheet 1
View BVdb publication page



KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia.

Leukemia
Malinowska-Ozdowy, K K; Frech, C C; Schönegger, A A; Eckert, C C; Cazzaniga, G G; Stanulla, M M; zur Stadt, U U; Mecklenbräuker, A A; Schuster, M M; Kneidinger, D D; von Stackelberg, A A; Locatelli, F F; Schrappe, M M; Horstmann, M A MA; Attarbaschi, A A; Bock, C C; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2015-08

Variant appearance in text: PTEN: D268E
PubMed Link: 25917266
Variant Present in the following documents:
  • leu2015107x5.xls, sheet 1
View BVdb publication page