PTEN c.376G>A ;(p.A126T)

Variant ID: 10-89692892-G-A

NM_000314.4(PTEN):c.376G>A;(p.A126T)

This variant was identified in 47 publications

View GRCh38 version.




Publications:


Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: PTEN: A126T
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: PTEN: Ala126Thr
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Elucidation of genomic origin of synchronous endometrial and ovarian cancer (SEO) by genomic and microsatellite analysis.

Journal Of Gynecologic Oncology
Sakamoto, Ikuko I; Hirotsu, Yosuke Y; Amemiya, Kenji K; Nozaki, Takahiro T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2022-10-06

Variant appearance in text: PTEN: Ala126Thr
PubMed Link: 36245225
Variant Present in the following documents:
  • jgo-34-e6.pdf
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: A126T
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Therapeutic impact and routine application of next-generation sequencing: A single institute study.

Biomedical Reports
Hernández-Pacheco Acosta, Rocío R; Del Carmen Damas Fuentes, María M; Gallego Pena, Nicolás N; Soto Rojas, Pilar P; Beato Zambrano, Carmen C
Publication Date: 2022-05

Variant appearance in text: PTEN: A126T
PubMed Link: 35386110
Variant Present in the following documents:
  • br-16-05-01516.pdf
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: PTEN: A126T
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
View BVdb publication page



Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.

Npj Breast Cancer
Ji, Jung Hwan JH; Bae, Soong June SJ; Kim, Kyungsoo K; Chu, Chihhao C; Lee, Kyung-A KA; Kim, Yoonjung Y; Kim, Jee Hung JH; Jeong, Joon J; Ahn, Sung Gwe SG
Publication Date: 2022-02-16

Variant appearance in text: PTEN: 376G>A; Ala126Thr
PubMed Link: 35173185
Variant Present in the following documents:
  • 41523_2022_384_MOESM1_ESM.pdf
View BVdb publication page



Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Oncogene
Mota, Alba A; Oltra, Sara S SS; Selenica, Pier P; Moiola, Cristian P CP; Casas-Arozamena, Carlos C; López-Gil, Carlos C; Diaz, Eva E; Gatius, Sonia S; Ruiz-Miro, María M; Calvo, Ana A; Rojo-Sebastián, Alejandro A; Hurtado, Pablo P; Piñeiro, Roberto R; Colas, Eva E; Gil-Moreno, Antonio A; Reis-Filho, Jorge S JS; Muinelo-Romay, Laura L; Abal, Miguel M; Matias-Guiu, Xavier X; Weigelt, Britta B; Moreno-Bueno, Gema G
Publication Date: 2022-03

Variant appearance in text: PTEN: A126T
PubMed Link: 35145232
Variant Present in the following documents:
  • 41388_2022_2221_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports
Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ
Publication Date: 2021-11-16

Variant appearance in text: PTEN: 376G>A; Ala126Thr
PubMed Link: 34788622
Variant Present in the following documents:
  • NIHMS1757901-supplement-2.xlsx, sheet 3
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: PTEN: A126T
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Multimodal liquid biopsy for early monitoring and outcome prediction of chemotherapy in metastatic breast cancer.

Npj Breast Cancer
Bortolini Silveira, Amanda A; Bidard, François-Clément FC; Tanguy, Marie-Laure ML; Girard, Elodie E; Trédan, Olivier O; Dubot, Coraline C; Jacot, William W; Goncalves, Anthony A; Debled, Marc M; Levy, Christelle C; Ferrero, Jean-Marc JM; Jouannaud, Christelle C; Rios, Maria M; Mouret-Reynier, Marie-Ange MA; Dalenc, Florence F; Hego, Caroline C; Rampanou, Aurore A; Albaud, Benoit B; Baulande, Sylvain S; Berger, Frédérique F; Lemonnier, Jérôme J; Renault, Shufang S; Desmoulins, Isabelle I; Proudhon, Charlotte C; Pierga, Jean-Yves JY
Publication Date: 2021-09-09

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 34504096
Variant Present in the following documents:
  • 41523_2021_319_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: PTEN: A126T
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 31
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: PTEN: A126T
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Mutation Profile Assessed by Next-Generation Sequencing (NGS) of Circulating Tumor DNA (ctDNA) in Chinese Lung Adenocarcinoma Patients: Analysis of Real-World Data.

Biomed Research International
Zhao, Songchen S; Cong, Xiaofeng X; Liu, Ziling Z
Publication Date: 2021

Variant appearance in text: PTEN: A126T
PubMed Link: 33997043
Variant Present in the following documents:
  • Main text
  • BMRI2021-8817898.pdf
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: PTEN: A126T
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Clinical Utility of Next-Generation Sequencing-Based Panel Testing under the Universal Health-Care System in Japan: A Retrospective Analysis at a Single University Hospital.

Cancers
Inagaki, Chiaki C; Maeda, Daichi D; Hatake, Kazue K; Sato, Yuki Y; Hashimoto, Kae K; Sakai, Daisuke D; Yachida, Shinichi S; Nonomura, Norio N; Satoh, Taroh T
Publication Date: 2021-03-05

Variant appearance in text: PTEN: 376G>A; A126T; rs1554898129
PubMed Link: 33807840
Variant Present in the following documents:
  • Main text
  • cancers-13-01121.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: PTEN: A126T
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Primary uterine ectomesenchymoma harboring a DICER1 mutation: case report with molecular analysis.

Virchows Archiv : An International Journal Of Pathology
Davidson, Ben B; Kleinberg, Lilach L; Børresen, Ida Marie IM; Slettevoll, Frøydis F; Fangberget, Anne A; Hindosh, Dunia D; Zahl Eriksson, Ane Gerda AG; Bjerkehagen, Bodil B
Publication Date: 2021-08

Variant appearance in text: PTEN: 376G>A; Ala126Thr
PubMed Link: 33595736
Variant Present in the following documents:
  • Main text
  • 428_2021_Article_3057.pdf
View BVdb publication page



Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

The Journal Of Pathology
Aguilar, Mitzi M; Zhang, He H; Zhang, Musi M; Cantarell, Brandi B; Sahoo, Subhransu S SS; Li, Hao-Dong HD; Cuevas, Ileana C IC; Lea, Jayanthi J; Miller, David S DS; Chen, Hao H; Zheng, Wenxin W; Gagan, Jeffrey J; Lucas, Elena E; Castrillon, Diego H DH
Publication Date: 2021-05

Variant appearance in text: PTEN: A126T
PubMed Link: 33506979
Variant Present in the following documents:
  • PATH-254-20-s005.xlsx, sheet 2
View BVdb publication page



Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

The Journal Of Pathology
Aguilar, Mitzi M; Zhang, He H; Zhang, Musi M; Cantarell, Brandi B; Sahoo, Subhransu S SS; Li, Hao-Dong HD; Cuevas, Ileana C IC; Lea, Jayanthi J; Miller, David S DS; Chen, Hao H; Zheng, Wenxin W; Gagan, Jeffrey J; Lucas, Elena E; Castrillon, Diego H DH
Publication Date: 2021-05

Variant appearance in text: PTEN: A126T
PubMed Link: 33506979
Variant Present in the following documents:
  • PATH-254-20-s005.xlsx, sheet 2
View BVdb publication page



Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: PTEN: A126T
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11-10

Variant appearance in text: PTEN: A126T
PubMed Link: 33173047
Variant Present in the following documents:
  • 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Unique Genomic Landscape of High-Grade Neuroendocrine Cervical Carcinoma: Implications for Rethinking Current Treatment Paradigms.

Jco Precision Oncology
Eskander, Ramez N RN; Elvin, Julia J; Gay, Laurie L; Ross, Jeffrey S JS; Miller, Vincent A VA; Kurzrock, Razelle R
Publication Date: 2020

Variant appearance in text: PTEN: A126T
PubMed Link: 33015532
Variant Present in the following documents:
  • PO.19.00248.pdf
View BVdb publication page



Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Plos One
Polymeros, Konstantinos K; Guttery, David S DS; Hew, Roger R; Bishop, Rachael R; Stannard, Elizabeth E; Macip, Salvador S; Symonds, Paul P; Moss, Esther L EL
Publication Date: 2020

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 32520976
Variant Present in the following documents:
  • pone.0233900.s001.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.

Genome Biology
Sakthikumar, Sharadha S; Roy, Ananya A; Haseeb, Lulu L; Pettersson, Mats E ME; Sundström, Elisabeth E; Marinescu, Voichita D VD; Lindblad-Toh, Kerstin K; Forsberg-Nilsson, Karin K
Publication Date: 2020-06-09

Variant appearance in text: PTEN: A126T
PubMed Link: 32513296
Variant Present in the following documents:
  • 13059_2020_2035_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: A126T
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PTEN: A126T
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: PTEN: A126T
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: A126T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Nature Communications
Gotoh, Osamu O; Sugiyama, Yuko Y; Takazawa, Yutaka Y; Kato, Kazuyoshi K; Tanaka, Norio N; Omatsu, Kohei K; Takeshima, Nobuhiro N; Nomura, Hidetaka H; Hasegawa, Kosei K; Fujiwara, Keiichi K; Taki, Mana M; Matsumura, Noriomi N; Noda, Tetsuo T; Mori, Seiichi S
Publication Date: 2019-10-31

Variant appearance in text: PTEN: A126T
PubMed Link: 31672974
Variant Present in the following documents:
  • 41467_2019_12985_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: PTEN: A126T
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: PTEN: A126T
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PTEN: A126T
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
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DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.

Nature Communications
Mamlouk, Soulafa S; Childs, Liam Harold LH; Aust, Daniela D; Heim, Daniel D; Melching, Friederike F; Oliveira, Cristiano C; Wolf, Thomas T; Durek, Pawel P; Schumacher, Dirk D; Bläker, Hendrik H; von Winterfeld, Moritz M; Gastl, Bastian B; Möhr, Kerstin K; Menne, Andrea A; Zeugner, Silke S; Redmer, Torben T; Lenze, Dido D; Tierling, Sascha S; Möbs, Markus M; Weichert, Wilko W; Folprecht, Gunnar G; Blanc, Eric E; Beule, Dieter D; Schäfer, Reinhold R; Morkel, Markus M; Klauschen, Frederick F; Leser, Ulf U; Sers, Christine C
Publication Date: 2017-01-25

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 28120820
Variant Present in the following documents:
  • ncomms14093-s2.xlsx, sheet 1
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Tracking the origin of simultaneous endometrial and ovarian cancer by next-generation sequencing - a case report.

Bmc Cancer
Valtcheva, Nadejda N; Lang, Franziska M FM; Noske, Aurelia A; Samartzis, Eleftherios P EP; Schmidt, Anna-Maria AM; Bellini, Elisa E; Fink, Daniel D; Moch, Holger H; Rechsteiner, Markus M; Dedes, Konstantin J KJ; Wild, Peter J PJ
Publication Date: 2017-01-19

Variant appearance in text: PTEN: 376G>A; Ala126Thr
PubMed Link: 28103826
Variant Present in the following documents:
  • Main text
  • 12885_2017_3054_MOESM1_ESM.xlsx, sheet 4
  • 12885_2017_3054_MOESM1_ESM.xlsx, sheet 3
  • 12885_2017_3054_MOESM1_ESM.xlsx, sheet 2
  • 12885_2017_3054_MOESM1_ESM.xlsx, sheet 1
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Prevalence of NRAS, PTEN and AKT1 gene mutations in the central nervous system metastases of non-small cell lung cancer.

Brain Tumor Pathology
Nicoś, Marcin M; Krawczyk, Paweł P; Jarosz, Bożena B; Sawicki, Marek M; Trojanowski, Tomasz T; Milanowski, Janusz J
Publication Date: 2017-01

Variant appearance in text: PTEN: A126T
PubMed Link: 28097440
Variant Present in the following documents:
  • Main text
  • 10014_2016_Article_276.pdf
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Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

The Oncologist
Hirshfield, Kim M KM; Tolkunov, Denis D; Zhong, Hua H; Ali, Siraj M SM; Stein, Mark N MN; Murphy, Susan S; Vig, Hetal H; Vazquez, Alexei A; Glod, John J; Moss, Rebecca A RA; Belyi, Vladimir V; Chan, Chang S CS; Chen, Suzie S; Goodell, Lauri L; Foran, David D; Yelensky, Roman R; Palma, Norma A NA; Sun, James X JX; Miller, Vincent A VA; Stephens, Philip J PJ; Ross, Jeffrey S JS; Kaufman, Howard H; Poplin, Elizabeth E; Mehnert, Janice J; Tan, Antoinette R AR; Bertino, Joseph R JR; Aisner, Joseph J; DiPaola, Robert S RS; Rodriguez-Rodriguez, Lorna L; Ganesan, Shridar S
Publication Date: 2016-11

Variant appearance in text: PTEN: A126T
PubMed Link: 27566247
Variant Present in the following documents:
  • supp_the2016-0049_Supplemental_Tables.pdf
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Mutational profiling of colorectal cancers with microsatellite instability.

Oncotarget
Lin, Elaine I EI; Tseng, Li-Hui LH; Gocke, Christopher D CD; Reil, Stacy S; Le, Dung T DT; Azad, Nilofer S NS; Eshleman, James R JR
Publication Date: 2015-12-08

Variant appearance in text: PTEN: 376G>A; A126T
PubMed Link: 26517354
Variant Present in the following documents:
  • Main text
  • oncotarget-06-42334.pdf
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Gene mutation profiling of primary glioblastoma through multiple tumor biopsy guided by 1H-magnetic resonance spectroscopy.

International Journal Of Clinical And Experimental Pathology
Tang, Chao C; Guo, Jun J; Chen, Hong H; Yao, Cheng-Jun CJ; Zhuang, Dong-Xiao DX; Wang, Yin Y; Tang, Wei-Jun WJ; Ren, Guang G; Yao, Yu Y; Wu, Jin-Song JS; Mao, Ying Y; Zhou, Liang-Fu LF
Publication Date: 2015

Variant appearance in text: PTEN: ALA126THR
PubMed Link: 26191234
Variant Present in the following documents:
  • Main text
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CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One
Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K
Publication Date: 2013

Variant appearance in text: PTEN: A126T
PubMed Link: 24205039
Variant Present in the following documents:
  • pone.0077945.s001.xls, sheet 2
  • pone.0077945.s001.xls, sheet 3
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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: A126T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page