PTEN c.253+1G>A

Variant ID: 10-89690847-G-A

NM_000314.4(PTEN):c.253+1G>A

This variant was identified in 17 publications

View GRCh38 version.




Publications:


PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Diagnostic Pathology
Rahmatinejad, Zahra Z; Goshayeshi, Ladan L; Bergquist, Robert R; Goshayeshi, Lena L; Golabpour, Amin A; Hoseini, Benyamin B
Publication Date: 2023-04-04

Variant appearance in text: rs587776667
PubMed Link: 37016356
Variant Present in the following documents:
  • Main text
  • 13000_2023_Article_1331.pdf
View BVdb publication page



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: 253+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_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: 253+1G>A
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: rs587776667
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)
Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q
Publication Date: 2022-10

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 35926241
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Evaluation of the Molecular Landscape of Pediatric Thyroid Nodules and Use of a Multigene Genomic Classifier in Children.

Jama Oncology
Gallant, Jean-Nicolas JN; Chen, Sheau-Chiann SC; Ortega, Carlos A CA; Rohde, Sarah L SL; Belcher, Ryan H RH; Netterville, James L JL; Baregamian, Naira N; Wang, Huiying H; Liang, Jiancong J; Ye, Fei F; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Weiss, Vivian L VL
Publication Date: 2022-09-01

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 35679040
Variant Present in the following documents:
  • jamaoncol-e221655-s001.pdf
View BVdb publication page



PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.

Frontiers In Medicine
Innella, Giovanni G; Bonora, Elena E; Neri, Iria I; Virdi, Annalucia A; Guglielmo, Alba A; Pradella, Laura Maria LM; Ceccarelli, Claudio C; Amato, Laura Benedetta LB; Lanzoni, Anna A; Miccoli, Sara S; Gasparre, Giuseppe G; Zuntini, Roberta R; Turchetti, Daniela D
Publication Date: 2021

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 34386506
Variant Present in the following documents:
  • Main text
  • fmed-08-688105.pdf
View BVdb publication page



High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2022-02

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 33758026
Variant Present in the following documents:
  • jmedgenet-2020-107347supp001.pdf
View BVdb publication page



High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2021-03-23

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 33758026
Variant Present in the following documents:
  • jmedgenet-2020-107347supp001.pdf
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: 253+1G>A
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 2
  • Table_2.xls, sheet 1
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: 253+1G>A
PubMed Link: 28677221
Variant Present in the following documents:
  • Main text
  • HUMU-38-1372.pdf
  • HUMU-38-1372-s001.pdf
View BVdb publication page



Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Oncoscience
Yakubov, Eduard E; Ghoochani, Ali A; Buslei, Rolf R; Buchfelder, Michael M; Eyüpoglu, Ilker Y IY; Savaskan, Nicolai N
Publication Date: 2016

Variant appearance in text: MMAC1: 253+1G>A
PubMed Link: 27489861
Variant Present in the following documents:
  • oncoscience-03-149-s001.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PTEN: 253+1G>A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: 253+1G>A
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page