Publications:

---

Primary thyroid rhabdomyosarcoma in an adult: A challenging case with histomolecular diagnosis and literature review.

International Journal Of Surgery Case Reports

Alsugair, Ziyad Z; Calcagno, Fabien F; Lifante, Jean-Christophe JC; Descotes, Francoise F; Meurgey, Alexandra A; Decaussin-Petrucci, Myriam M

Publication Date: 2023-05-11

Variant appearance in text: PTEN: 860C>G; Ser287*

PubMed Link: 37187114

Variant Present in the following documents:

• Main text
• main.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: 860C>G; Ser287Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Nature Cancer

Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A

Publication Date: 2022-12-30

Variant appearance in text: PTEN: S287*

PubMed Link: 36585449

Variant Present in the following documents:

• 43018_2022_474_MOESM12_ESM.xlsx, sheet 11
• 43018_2022_474_MOESM3_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM7_ESM.xlsx, sheet 11
• 43018_2022_474_MOESM2_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM10_ESM.xlsx, sheet 11
• 43018_2022_474_MOESM10_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM2_ESM.xlsx, sheet 11
• 43018_2022_474_MOESM12_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM7_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM3_ESM.xlsx, sheet 11

View BVdb publication page

---

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Cancer Research And Treatment

Kim, Moonsik M; Lee, Changseon C; Hong, Juyeon J; Kim, Juhee J; Jeong, Ji Yun JY; Park, Nora Jee-Young NJ; Kim, Ji-Eun JE; Park, Ji Young JY

Publication Date: 2022-11-25

Variant appearance in text: PTEN: S287*

PubMed Link: 36470260

Variant Present in the following documents:

• crt-2022-891-Supplementary-Table-2.pdf

View BVdb publication page

---

Molecular Characteristics of Radon Associated Lung Cancer Highlights MET Alterations.

Cancers

Gamerith, Gabriele G; Kloppenburg, Marcel M; Mildner, Finn F; Amann, Arno A; Merkelbach-Bruse, Sabine S; Heydt, Carina C; Siemanowski, Janna J; Buettner, Reinhard R; Fiegl, Michael M; Manzl, Claudia C; Pall, Georg G

Publication Date: 2022-10-19

Variant appearance in text: PTEN: 860C>G

PubMed Link: 36291897

Variant Present in the following documents:

• Main text
• cancers-14-05113.pdf

View BVdb publication page

---

Tripartite antigen-agnostic combination immunotherapy cures established poorly immunogenic tumors.

Journal For Immunotherapy Of Cancer

Borchmann, Sven S; Selenz, Carolin C; Lohmann, Mia M; Ludwig, Hanna H; Gassa, Asmae A; Brägelmann, Johannes J; Lohneis, Philipp P; Meder, Lydia L; Mattlener, Julia J; Breid, Sara S; Nill, Marieke M; Fassunke, Jana J; Wisdom, Amy J AJ; Compes, Anik A; Gathof, Birgit B; Alakus, Hakan H; Kirsch, David D; Hekmat, Khosro K; Büttner, Reinhard R; Reinhardt, H Christian HC; Hallek, Michael M; Ullrich, Roland T RT

Publication Date: 2022-10

Variant appearance in text: PTEN: 860C>G; S287*

PubMed Link: 36223955

Variant Present in the following documents:

• jitc-2022-004781supp002.pdf

View BVdb publication page

---

Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Cancer Research And Treatment

Hong, Jung Yong JY; Cho, Hee Jin HJ; Yun, Kum-Hee KH; Lee, Young Han YH; Kim, Seung Hyun SH; Baek, Wooyeol W; Kim, Sang Kyum SK; Lee, Yurimi Y; Choi, Yoon-La YL; Kwon, Minsuk M; Kim, Hyo Song HS; Lee, Jeeyun J

Publication Date: 2022-09-27

Variant appearance in text: PTEN: S287*

PubMed Link: 36164943

Variant Present in the following documents:

• crt-2022-251-Supplementary-Table-2.xlsx, sheet 1

View BVdb publication page

---

Pan-cancer molecular tumor board experience with biomarker-driven precision immunotherapy.

Npj Precision Oncology

Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Okamura, Ryosuke R; Eskander, Ramez N RN; Botta, Gregory G; Patel, Hitendra H; Lee, Suzanna S; Lippman, Scott M SM; Sicklick, Jason K JK; Kurzrock, Razelle R

Publication Date: 2022-09-22

Variant appearance in text: PTEN: S287*

PubMed Link: 36138116

Variant Present in the following documents:

• 41698_2022_309_MOESM1_ESM.pdf

View BVdb publication page

---

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: PTEN: 860C>G; S287*

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

---

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: PTEN: S287*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 5
• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

---

Role of next generation sequencing-based liquid biopsy in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors: impact of STK11, KRAS and TP53 mutations and co-mutations on outcome.

Translational Lung Cancer Research

Pavan, Alberto A; Bragadin, Andrea Boscolo AB; Calvetti, Lorenzo L; Ferro, Alessandra A; Zulato, Elisabetta E; Attili, Ilaria I; Nardo, Giorgia G; Dal Maso, Alessandro A; Frega, Stefano S; Menin, Andrea Giovanni AG; Fassan, Matteo M; Calabrese, Fiorella F; Pasello, Giulia G; Guarneri, Valentina V; Aprile, Giuseppe G; Conte, PierFranco P; Rosell, Rafael R; Indraccolo, Stefano S; Bonanno, Laura L

Publication Date: 2021-01

Variant appearance in text: PTEN: S287*

PubMed Link: 33569305

Variant Present in the following documents:

• tlcr-10-01-202-supplementary.pdf

View BVdb publication page

---

Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.

Breast Cancer Research : Bcr

Riedlinger, Gregory M GM; Joshi, Sonali S; Hirshfield, Kim M KM; Barnard, Nicola N; Ganesan, Shridar S

Publication Date: 2021-01-13

Variant appearance in text: PTEN: S287*

PubMed Link: 33441174

Variant Present in the following documents:

• Main text
• 13058_2020_Article_1385.pdf

View BVdb publication page

---

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).

Diagnostic Pathology

Vanni, Irene I; Casula, Milena M; Pastorino, Lorenza L; Manca, Antonella A; Dalmasso, Bruna B; Andreotti, Virginia V; Pisano, Marina M; Colombino, Maria M; , ; Pfeffer, Ulrich U; Tanda, Enrica Teresa ET; Rozzo, Carla C; Paliogiannis, Panagiotis P; Cossu, Antonio A; Ghiorzo, Paola P; Palmieri, Giuseppe G; ,

Publication Date: 2020-12-14

Variant appearance in text: PTEN: Ser287Ter

PubMed Link: 33317587

Variant Present in the following documents:

• Main text
• 13000_2020_1052_MOESM5_ESM.xlsx, sheet 1
• 13000_2020_1052_MOESM3_ESM.xlsx, sheet 1
• 13000_2020_1052_MOESM2_ESM.xlsx, sheet 1
• 13000_2020_Article_1052.pdf
• 13000_2020_1052_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: S287*

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

---

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: S287*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: 860C>G; S287*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: PTEN: S287*

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

---

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: PTEN: S287*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell

Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ

Publication Date: 2017-08-14

Variant appearance in text: PTEN: S287*

PubMed Link: 28810143

Variant Present in the following documents:

• mmc4.xlsx, sheet 4

View BVdb publication page

---

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: 860C>G; S287*

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Oncotarget

Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S

Publication Date: 2016-04-19

Variant appearance in text: PTEN: S287X

PubMed Link: 26933808

Variant Present in the following documents:

• oncotarget-07-21556-s001.pdf

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: PTEN: S287*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

---

Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.

Elife

Zhao, Hui H; Thienpont, Bernard B; Yesilyurt, Betül Tuba BT; Moisse, Matthieu M; Reumers, Joke J; Coenegrachts, Lieve L; Sagaert, Xavier X; Schrauwen, Stefanie S; Smeets, Dominiek D; Matthijs, Gert G; Aerts, Stein S; Cools, Jan J; Metcalf, Alex A; Spurdle, Amanda A; , ; Amant, Frederic F; Lambrechts, Diether D

Publication Date: 2014-08-01

Variant appearance in text: PTEN: S287X

PubMed Link: 25085081

Variant Present in the following documents:

• elife02725s004.xlsx, sheet 16

View BVdb publication page

---