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

---

Targeting the Ezrin Adaptor Protein Sensitizes Metastatic Breast Cancer Cells to Chemotherapy and Reduces Neoadjuvant Therapy-induced Metastasis.

Cancer Research Communications

Hoskin, Victoria V; Ghaffari, Abdi A; Laight, Brian J BJ; SenGupta, Sandip S; Madarnas, Yolanda Y; Nicol, Christopher J B CJB; Elliott, Bruce E BE; Varma, Sonal S; Greer, Peter A PA

Publication Date: 2022-06

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 36923551

Variant Present in the following documents:

• crc-21-0117-s01.pdf

View BVdb publication page

---

Discovering Synergistic Compounds with BYL-719 in PI3K Overactivated Basal-like PDXs.

Cancers

Boyd, David C DC; Zboril, Emily K EK; Olex, Amy L AL; Leftwich, Tess J TJ; Hairr, Nicole S NS; Byers, Holly A HA; Valentine, Aaron D AD; Altman, Julia E JE; Alzubi, Mohammad A MA; Grible, Jacqueline M JM; Turner, Scott A SA; Ferreira-Gonzalez, Andrea A; Dozmorov, Mikhail G MG; Harrell, J Chuck JC

Publication Date: 2023-03-03

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 36900375

Variant Present in the following documents:

• cancers-15-01582.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>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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>T

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology

Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA

Publication Date: 2022-11

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 36321551

Variant Present in the following documents:

• MSB-18-e11006-s010.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

---

Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por

Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A

Publication Date: 2021

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 35002543

Variant Present in the following documents:

• Table4.xlsx, sheet 1

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Sequential Therapy with PARP and WEE1 Inhibitors Minimizes Toxicity while Maintaining Efficacy.

Cancer Cell

Fang, Yong Y; McGrail, Daniel J DJ; Sun, Chaoyang C; Labrie, Marilyne M; Chen, Xiaohua X; Zhang, Dong D; Ju, Zhenlin Z; Vellano, Christopher P CP; Lu, Yiling Y; Li, Yongsheng Y; Jeong, Kang Jin KJ; Ding, Zhiyong Z; Liang, Jiyong J; Wang, Steven W SW; Dai, Hui H; Lee, Sanghoon S; Sahni, Nidhi N; Mercado-Uribe, Imelda I; Kim, Tae-Beom TB; Chen, Ken K; Lin, Shiaw-Yih SY; Peng, Guang G; Westin, Shannon N SN; Liu, Jinsong J; O'Connor, Mark J MJ; Yap, Timothy A TA; Mills, Gordon B GB

Publication Date: 2019-06-10

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 31185210

Variant Present in the following documents:

• Main text

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>T

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 2
• Table_2.xls, sheet 1

View BVdb publication page

---

Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget

Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD

Publication Date: 2018-05-22

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 29876005

Variant Present in the following documents:

• oncotarget-09-25517-s001.pdf

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>T

PubMed Link: 28677221

Variant Present in the following documents:

• Main text
• HUMU-38-1372.pdf
• HUMU-38-1372-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>T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 26681312

Variant Present in the following documents:

View BVdb publication page

---

Exon expression arrays as a tool to identify new cancer genes.

Plos One

Schutte, Mieke M; Elstrodt, Fons F; Bralten, Linda B C LB; Nagel, Jord H A JH; Duijm, Elza E; Hollestelle, Antoinette A; Vuerhard, Maartje J MJ; Wasielewski, Marijke M; Peeters, Justine K JK; van der Spek, Peter P; Sillevis Smitt, Peter A PA; French, Pim J PJ

Publication Date: 2007-08-20

Variant appearance in text: PTEN: 253+1G>T

PubMed Link: 18688287

Variant Present in the following documents:

• Main text

View BVdb publication page

---

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Journal Of Medical Genetics

Aretz, S S; Stienen, D D; Uhlhaas, S S; Stolte, M M; Entius, M M MM; Loff, S S; Back, W W; Kaufmann, A A; Keller, K-M KM; Blaas, S H SH; Siebert, R R; Vogt, S S; Spranger, S S; Holinski-Feder, E E; Sunde, L L; Propping, P P; Friedl, W W

Publication Date: 2007-11

Variant appearance in text:

PubMed Link: 17873119

Variant Present in the following documents:

• Main text

View BVdb publication page

---