Publications:

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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: 987_990del; Asn329fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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B-cell Receptor Signaling Induced Metabolic Alterations in Chronic Lymphocytic Leukemia Can Be Partially Bypassed by TP53 Abnormalities.

Hemasphere

Kluckova, Katarina K; Clear, Andrew J AJ; D'Avola, Annalisa A; Rassenti, Laura Z LZ; Kipps, Thomas J TJ; Gribben, John G JG; Riches, John C JC

Publication Date: 2022-06

Variant appearance in text: PTEN: 987_990del; Asn329Lysfs*14

PubMed Link: 35747847

Variant Present in the following documents:

• hs9-6-e722-s001.pdf

View BVdb publication page

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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases

Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,

Publication Date: 2022-02-28

Variant appearance in text: PTEN: 984_987del; Asn329Lysfs

PubMed Link: 35227301

Variant Present in the following documents:

• 13023_2021_2079_MOESM1_ESM.pdf

View BVdb publication page

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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: 987_990delTAAA

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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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: 987_990delTAAA; N329Kfs*14

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.

Molecular Oncology

Nørøxe, Dorte S DS; Yde, Christina W CW; Østrup, Olga O; Michaelsen, Signe R SR; Schmidt, Ane Y AY; Kinalis, Savvas S; Torp, Mathias H MH; Skjøth-Rasmussen, Jane J; Brennum, Jannick J; Hamerlik, Petra P; Poulsen, Hans S HS; Nielsen, Finn C FC; Lassen, Ulrik U

Publication Date: 2020-11

Variant appearance in text: PTEN: 987_990delTAAA; N329fs*14

PubMed Link: 32885540

Variant Present in the following documents:

• MOL2-14-2727-s001.pdf

View BVdb publication page

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Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics

Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A

Publication Date: 2020-07-11

Variant appearance in text: PTEN: 987_990delTAAA; Asn329fs

PubMed Link: 32652986

Variant Present in the following documents:

• 12920_2020_753_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: N329Kfs*14

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: PTEN: 987_990delTAAA; N329Kfs*14

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PTEN: 987_990delTAAA; Asn329Lysfs*14

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 11
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: N/A

PubMed Link: 31754222

Variant Present in the following documents:

View BVdb publication page

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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

Human Mutation

Mester, Jessica L JL; Ghosh, Rajarshi R; Pesaran, Tina T; Huether, Robert R; Karam, Rachid R; Hruska, Kathleen S KS; Costa, Helio A HA; Lachlan, Katherine K; Ngeow, Joanne J; Barnholtz-Sloan, Jill J; Sesock, Kaitlin K; Hernandez, Felicia F; Zhang, Liying L; Milko, Laura L; Plon, Sharon E SE; Hegde, Madhuri M; Eng, Charis C

Publication Date: 2018-11

Variant appearance in text: PTEN: 987_990delTAAA; N329KfsX14

PubMed Link: 30311380

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 987_990delTAAA; N329fs*14

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PTEN: 987_990delTAAA; Asn329Lysfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: 984_987delAAAT; N329fs*14

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Cowden Syndrome with a Novel Germline PTEN Mutation and an Unusual Clinical Course.

Annals Of Dermatology

Seol, Jung Eun JE; Park, In Ho IH; Lee, Wonkyung W; Kim, Hyojin H; Seo, Jong Keun JK; Oh, Seung Hwan SH

Publication Date: 2015-06

Variant appearance in text: PTEN: N329fs*14

PubMed Link: 26082588

Variant Present in the following documents:

• Main text
• ad-27-306.pdf

View BVdb publication page

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Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms.

Bmc Cancer

Mackenzie, Robertson R; Kommoss, Stefan S; Winterhoff, Boris J BJ; Kipp, Benjamin R BR; Garcia, Joaquin J JJ; Voss, Jesse J; Halling, Kevin K; Karnezis, Anthony A; Senz, Janine J; Yang, Winnie W; Prigge, Elena-Sophie ES; Reuschenbach, Miriam M; Doeberitz, Magnus Von Knebel MV; Gilks, Blake C BC; Huntsman, David G DG; Bakkum-Gamez, Jamie J; McAlpine, Jessica N JN; Anglesio, Michael S MS

Publication Date: 2015-05-19

Variant appearance in text: PTEN: Asn329Lysfs*14

PubMed Link: 25986173

Variant Present in the following documents:

• 12885_2015_1421_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Uncovering the genomic heterogeneity of multifocal breast cancer.

The Journal Of Pathology

Desmedt, Christine C; Fumagalli, Debora D; Pietri, Elisabetta E; Zoppoli, Gabriele G; Brown, David D; Nik-Zainal, Serena S; Gundem, Gunes G; Rothé, Françoise F; Majjaj, Samira S; Garuti, Anna A; Carminati, Enrico E; Loi, Sherene S; Van Brussel, Thomas T; Boeckx, Bram B; Maetens, Marion M; Mudie, Laura L; Vincent, Delphine D; Kheddoumi, Naima N; Serra, Luigi L; Massa, Ilaria I; Ballestrero, Alberto A; Amadori, Dino D; Salgado, Roberto R; de Wind, Alexandre A; Lambrechts, Diether D; Piccart, Martine M; Larsimont, Denis D; Campbell, Peter J PJ; Sotiriou, Christos C

Publication Date: 2015-08

Variant appearance in text: PTEN: 984_987delAAAT; N329fs*14

PubMed Link: 25850943

Variant Present in the following documents:

• path0236-0457-sd9.xlsx, sheet 1

View BVdb publication page

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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: 987_990del; Asn329Lysfs*14

PubMed Link: 25669429

Variant Present in the following documents:

View BVdb publication page

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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

LaDuca, Holly H; Stuenkel, A J AJ; Dolinsky, Jill S JS; Keiles, Steven S; Tandy, Stephany S; Pesaran, Tina T; Chen, Elaine E; Gau, Chia-Ling CL; Palmaer, Erika E; Shoaepour, Kamelia K; Shah, Divya D; Speare, Virginia V; Gandomi, Stephanie S; Chao, Elizabeth E

Publication Date: 2014-11

Variant appearance in text: PTEN: 987_990delTAAA

PubMed Link: 24763289

Variant Present in the following documents:

• gim201440x3.xls, sheet 1

View BVdb publication page

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