Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: PTEN: 698G>A; Arg233Gln; rs770025422

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: PTEN: R233Q

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 6

View BVdb publication page

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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: R233Q

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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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: 698G>A; R233Q

PubMed Link: 36311816

Variant Present in the following documents:

• crc-22-0314-s02.xlsx, sheet 6

View BVdb publication page

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The mutational landscape of cancer's vulnerability to ionizing radiation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Gopal, Priyanka P; Yard, Brian D BD; Petty, Aaron A; Lal, Jessica C JC; Bera, Titas K TK; Hoang, Trung Q TQ; Buhimschi, Alexandru B AB; Abazeed, Mohamed E ME

Publication Date: 2022-10-12

Variant appearance in text: PTEN: R233Q

PubMed Link: 36222846

Variant Present in the following documents:

• ccr-22-1914_supplementary_data_2_suppds2.xlsx, sheet 1
• ccr-22-1914_supplementary_data_3_suppds3.xlsx, sheet 1

View BVdb publication page

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Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics

Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R

Publication Date: 2022-04-25

Variant appearance in text: PTEN: 698G>A

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Genomic Profiling for Therapeutic Decision and Identification of Gene Mutation in Uterine Endometrial Dedifferentiated Carcinoma.

Case Reports In Oncology

Taira, Yusuke Y; Shimoji, Yuko Y; Arakaki, Yoshihisa Y; Nakamoto, Tomoko T; Kudaka, Wataru W; Aoki, Yoichi Y

Publication Date: 2022

Variant appearance in text: PTEN: R233Q

PubMed Link: 35350800

Variant Present in the following documents:

• cro-0015-0046.pdf

View BVdb publication page

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Synergistic antitumor activity of pan-PI3K inhibition and immune checkpoint blockade in bladder cancer.

Journal For Immunotherapy Of Cancer

Zhu, Shaoming S; Ma, A-Hong AH; Zhu, Zheng Z; Adib, Elio E; Rao, Ting T; Li, Na N; Ni, Kaiyuan K; Chittepu, Veera Chandra Sekhar Reddy VCSR; Prabhala, Rao R; Garisto Risco, Juan J; Kwiatkowski, David D; Mouw, Kent K; Sonpavde, Guru G; Cheng, Fan F; Pan, Chong-Xian CX

Publication Date: 2021-11

Variant appearance in text: PTEN: R233Q

PubMed Link: 34725212

Variant Present in the following documents:

• jitc-2021-002917supp002.pdf

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: R233Q

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: PTEN: R233Q

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PTEN: R233Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth.

Science Advances

Shin, Seung-Min SM; Kim, Ji-Sun JS; Park, Seong-Wook SW; Jun, Sei-Yong SY; Kweon, Hye-Jin HJ; Choi, Dong-Ki DK; Lee, Dakeun D; Cho, Yong Beom YB; Kim, Yong-Sung YS

Publication Date: 2020-01

Variant appearance in text: PTEN: R233Q

PubMed Link: 31998840

Variant Present in the following documents:

• aay2174_SM.pdf

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: PTEN: R233Q

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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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: R233Q

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

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Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.

Biological Psychiatry

Fricano-Kugler, Catherine J CJ; Getz, Stephanie A SA; Williams, Michael R MR; Zurawel, Ashley A AA; DeSpenza, Tyrone T; Frazel, Paul W PW; Li, Meijie M; O'Malley, Alistair J AJ; Moen, Erika L EL; Luikart, Bryan W BW

Publication Date: 2018-08-15

Variant appearance in text: PTEN: R233Q

PubMed Link: 29373119

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: R233Q; rs770025422

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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Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer

Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S

Publication Date: 2016-10-18

Variant appearance in text: PTEN: 698G>A; Arg233Gln

PubMed Link: 27756406

Variant Present in the following documents:

• 12943_2016_549_MOESM2_ESM.xlsx, sheet 1

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: 698G>A; R233Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles.

Cancer Discovery

Kim, Eejung E; Ilic, Nina N; Shrestha, Yashaswi Y; Zou, Lihua L; Kamburov, Atanas A; Zhu, Cong C; Yang, Xiaoping X; Lubonja, Rakela R; Tran, Nancy N; Nguyen, Cindy C; Lawrence, Michael S MS; Piccioni, Federica F; Bagul, Mukta M; Doench, John G JG; Chouinard, Candace R CR; Wu, Xiaoyun X; Hogstrom, Larson L; Natoli, Ted T; Tamayo, Pablo P; Horn, Heiko H; Corsello, Steven M SM; Lage, Kasper K; Root, David E DE; Subramanian, Aravind A; Golub, Todd R TR; Getz, Gad G; Boehm, Jesse S JS; Hahn, William C WC

Publication Date: 2016-07

Variant appearance in text: PTEN: R233Q

PubMed Link: 27147599

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing of tyrosine kinase inhibitor-resistant non-small-cell lung cancers in patients harboring epidermal growth factor-activating mutations.

Bmc Cancer

Masago, Katsuhiro K; Fujita, Shiro S; Muraki, Miho M; Hata, Akito A; Okuda, Chiyuki C; Otsuka, Kyoko K; Kaji, Reiko R; Takeshita, Jumpei J; Kato, Ryoji R; Katakami, Nobuyuki N; Hirata, Yukio Y

Publication Date: 2015-11-16

Variant appearance in text: PTEN: R233Q

PubMed Link: 26572169

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1925.pdf

View BVdb publication page

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Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production.

Human Molecular Genetics

Tilot, Amanda K AK; Gaugler, Mary K MK; Yu, Qi Q; Romigh, Todd T; Yu, Wanfeng W; Miller, Robert H RH; Frazier, Thomas W TW; Eng, Charis C

Publication Date: 2014-06-15

Variant appearance in text: PTEN: R233Q

PubMed Link: 24470394

Variant Present in the following documents:

• Main text

View BVdb publication page

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