PTEN c.613A>G ;(p.M205V)

Variant ID: 10-89711995-A-G

NM_000314.4(PTEN):c.613A>G;(p.M205V)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


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: rs776763121
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
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: 613A>G; M205V
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: PTEN: 613A>G; M205V
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: PTEN: 613A>G; M205V
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: PTEN: 613A>G; M205V
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07

Variant appearance in text: rs776763121
PubMed Link: 34590037
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine
Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG
Publication Date: 2021-08

Variant appearance in text: PTEN: M205V
PubMed Link: 34268892
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1739.pdf
View BVdb publication page



Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine
Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG
Publication Date: 2021-08

Variant appearance in text: PTEN: M205V
PubMed Link: 34268892
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1739.pdf
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: M205V
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
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: 613A>G
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: PTEN: M205V
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Nature Communications
Rashid, Mamunur M; van der Horst, Michiel M; Mentzel, Thomas T; Butera, Francesca F; Ferreira, Ingrid I; Pance, Alena A; Rütten, Arno A; Luzar, Bostjan B; Marusic, Zlatko Z; de Saint Aubain, Nicolas N; Ko, Jennifer S JS; Billings, Steven D SD; Chen, Sofia S; Abi Daoud, Marie M; Hewinson, James J; Louzada, Sandra S; Harms, Paul W PW; Cerretelli, Guia G; Robles-Espinoza, Carla Daniela CD; Patel, Rajiv M RM; van der Weyden, Louise L; Bakal, Chris C; Hornick, Jason L JL; Arends, Mark J MJ; Brenn, Thomas T; Adams, David J DJ
Publication Date: 2019-05-17

Variant appearance in text: PTEN: M205V
PubMed Link: 31101826
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_9979.pdf
  • 41467_2019_9979_MOESM2_ESM.pdf
View BVdb publication page



Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.

American Journal Of Human Genetics
Smith, Iris Nira IN; Thacker, Stetson S; Seyfi, Marilyn M; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2019-05-02

Variant appearance in text: PTEN: 613A>G; Met205Val
PubMed Link: 31006514
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: PTEN: 613A>G; Met205Val; rs776763121
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
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: M205V
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.

Journal Of Biomolecular Structure & Dynamics
Smith, Iris Nira IN; Thacker, Stetson S; Jaini, Ritika R; Eng, Charis C
Publication Date: 2019-04

Variant appearance in text: PTEN: M205V
PubMed Link: 29663862
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Human Mutation
Chen, Hannah Jinlian HJ; Romigh, Todd T; Sesock, Kaitlin K; Eng, Charis C
Publication Date: 2017-10

Variant appearance in text: PTEN: 613A>G
PubMed Link: 28677221
Variant Present in the following documents:
  • HUMU-38-1372-s001.pdf
View BVdb publication page



KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg
Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C
Publication Date: 2015-11

Variant appearance in text: PTEN: 613A>G; Met205Val
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page