Publications:

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Calorie restriction alters the mechanisms of radiation-induced mouse thymic lymphomagenesis.

Plos One

Nakayama, Takafumi T; Sunaoshi, Masaaki M; Shang, Yi Y; Takahashi, Mizuki M; Saito, Takato T; Blyth, Benjamin J BJ; Amasaki, Yoshiko Y; Daino, Kazuhiro K; Shimada, Yoshiya Y; Tachibana, Akira A; Kakinuma, Shizuko S

Publication Date: 2023

Variant appearance in text: PTEN: 79T>A; Y27N

PubMed Link: 36662808

Variant Present in the following documents:

• Main text
• pone.0280560.pdf

View BVdb publication page

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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: rs746128825

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

View BVdb publication page

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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: 79T>A; Y27N

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: PTEN: 79T>A; Tyr27Asn

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Neuro-Oncology

Zhang, Yalan Y; Lucas, Calixto-Hope G CG; Young, Jacob S JS; Morshed, Ramin A RA; McCoy, Lucie L; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Daras, Mariza M; Butowski, Nicholas A NA; Villanueva-Meyer, Javier E JE; Cha, Soonmee S; Wrensch, Margaret M; Wiencke, John K JK; Lee, Julieann C JC; Pekmezci, Melike M; Phillips, Joanna J JJ; Perry, Arie A; Bollen, Andrew W AW; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward F EF; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Clarke, Jennifer L JL; Chang, Susan M SM; Molinaro, Annette M AM; Solomon, David A DA

Publication Date: 2022-10-03

Variant appearance in text: PTEN: 79T>A; Y27N

PubMed Link: 35395677

Variant Present in the following documents:

• noac089_suppl_supplementary_tables_s1-s11.xlsx, sheet 5

View BVdb publication page

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: rs746128825

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: rs746128825

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: PTEN: Y27N

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.xlsx, sheet 1

View BVdb publication page

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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H

Publication Date: 2020

Variant appearance in text: PTEN: Y27N

PubMed Link: 32704382

Variant Present in the following documents:

• Main text
• 41421_2020_Article_177.pdf

View BVdb publication page

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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: Y27N

PubMed Link: 32513296

Variant Present in the following documents:

• 13059_2020_2035_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Ancestry-specific predisposing germline variants in cancer.

Genome Medicine

Oak, Ninad N; Cherniack, Andrew D AD; Mashl, R Jay RJ; , ; Hirsch, Fred R FR; Ding, Li L; Beroukhim, Rameen R; Gümüş, Zeynep H ZH; Plon, Sharon E SE; Huang, Kuan-Lin KL

Publication Date: 2020-05-29

Variant appearance in text: PTEN: Y27N; rs746128825

PubMed Link: 32471518

Variant Present in the following documents:

• 13073_2020_744_MOESM2_ESM.xlsx, sheet 7
• 13073_2020_744_MOESM2_ESM.xlsx, sheet 6

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: Y27N

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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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: PTEN: 79T>A; Y27N

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic alterations in circulating cell-free DNA of oesophageal carcinoma patients during primary staging are indicative for post-surgical tumour recurrence.

Scientific Reports

Pasternack, Helen H; Fassunke, Jana J; Plum, Patrick Sven PS; Chon, Seung-Hun SH; Hescheler, Daniel Alexander DA; Gassa, Asmae A; Merkelbach-Bruse, Sabine S; Bruns, Christiane Josephine CJ; Perner, Sven S; Hallek, Michael M; Büttner, Reinhard R; Bollschweiler, Elfriede E; Hölscher, Arnulf Heinrich AH; Quaas, Alexander A; Zander, Thomas T; Weiss, Jonathan J; Alakus, Hakan H

Publication Date: 2018-10-08

Variant appearance in text: PTEN: Y27N

PubMed Link: 30297788

Variant Present in the following documents:

• Main text
• 41598_2018_Article_33027.pdf

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: PTEN: 79T>A; Y27N

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.

Plos One

Li, Guoli G; Guo, Xinwu X; Chen, Ming M; Tang, Lili L; Jiang, Hui H; Day, Julia X JX; Xie, Yueliang Y; Peng, Limin L; Xu, Xunxun X; Li, Jinliang J; Wang, Shouman S; Xiao, Zhi Z; Dai, Lizhong L; Wang, Jun J

Publication Date: 2018

Variant appearance in text: PTEN: 79T>A; Y27N

PubMed Link: 30212483

Variant Present in the following documents:

• Main text
• pone.0203495.s004.xlsx, sheet 1

View BVdb publication page

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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: Y27N

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Ngeow, Joanne J; Stanuch, Kim K; Mester, Jessica L JL; Barnholtz-Sloan, Jill S JS; Eng, Charis C

Publication Date: 2014-06-10

Variant appearance in text: PTEN: 79T>A; Tyr27Asn

PubMed Link: 24778394

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Plos One

Han, Sae-Won SW; Kim, Hwang-Phill HP; Shin, Jong-Yeon JY; Jeong, Eun-Goo EG; Lee, Won-Chul WC; Lee, Kyung-Hun KH; Won, Jae-Kyung JK; Kim, Tae-Yong TY; Oh, Do-Youn DY; Im, Seock-Ah SA; Bang, Yung-Jue YJ; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Park, Jae-Gahb JG; Kang, Gyeong Hoon GH; Seo, Jeong-Sun JS; Kim, Jong-Il JI; Kim, Tae-You TY

Publication Date: 2013

Variant appearance in text: PTEN: Y27N

PubMed Link: 23700467

Variant Present in the following documents:

• pone.0064271.s004.xlsx, sheet 1

View BVdb publication page

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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: Y27N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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