Publications:

---

Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: IDH1: S261L

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2
• PATH-259-56-s006.xlsx, sheet 2

View BVdb publication page

---

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: IDH1: 782C>T

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Development and Analytical Validation of a Targeted Next-Generation Sequencing Panel to Detect Actionable Mutations for Targeted Therapy.

Oncotargets And Therapy

Wang, Dandan D; Ma, Kai K; Deng, Wei W; Li, Jingyu J; Xiang, Shaohua S; Zhang, Yang Y; Fu, Ying Y; Dai, Heng H; Huang, Bingding B

Publication Date: 2021

Variant appearance in text: IDH1: S261L

PubMed Link: 33854338

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Beyond TNBC: Repositioning of Clofazimine Against a Broad Range of Wnt-Dependent Cancers.

Frontiers In Oncology

Xu, Jiabin J; Koval, Alexey A; Katanaev, Vladimir L VL

Publication Date: 2020

Variant appearance in text: IDH1: S261L

PubMed Link: 33363033

Variant Present in the following documents:

• Main text
• fonc-10-602817.pdf

View BVdb publication page

---

SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.

Genomics, Proteomics & Bioinformatics

Ren, Yongzhe Y; Zhang, Yang Y; Wang, Dandan D; Liu, Fengying F; Fu, Ying Y; Xiang, Shaohua S; Su, Li L; Li, Jiancheng J; Dai, Heng H; Huang, Bingding B

Publication Date: 2020-02

Variant appearance in text: IDH1: 782C>T; S261L

PubMed Link: 32428603

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc8.xlsx, sheet 3
• mmc8.xlsx, sheet 2
• mmc8.xlsx, sheet 4
• mmc6.xlsx, sheet 2
• mmc8.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: IDH1: S261L

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

---

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

European Journal Of Cancer (Oxford, England : 1990)

George, Sally L SL; Izquierdo, Elisa E; Campbell, James J; Koutroumanidou, Eleni E; Proszek, Paula P; Jamal, Sabri S; Hughes, Deborah D; Yuan, Lina L; Marshall, Lynley V LV; Carceller, Fernando F; Chisholm, Julia C JC; Vaidya, Sucheta S; Mandeville, Henry H; Angelini, Paola P; Wasti, Ajla A; Bexelius, Tomas T; Thway, Khin K; Gatz, Susanne A SA; Clarke, Matthew M; Al-Lazikani, Bissan B; Barone, Giuseppe G; Anderson, John J; Tweddle, Deborah A DA; Gonzalez, David D; Walker, Brian A BA; Barton, Jack J; Depani, Sarita S; Eze, Jessica J; Ahmed, Saira W SW; Moreno, Lucas L; Pearson, Andrew A; Shipley, Janet J; Jones, Chris C; Hargrave, Darren D; Jacques, Thomas S TS; Hubank, Michael M; Chesler, Louis L

Publication Date: 2019-11

Variant appearance in text: IDH1: S261L

PubMed Link: 31543384

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One

Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM

Publication Date: 2019

Variant appearance in text: IDH1: 782C>T; S261L

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

---

A robust targeted sequencing approach for low input and variable quality DNA from clinical samples.

Npj Genomic Medicine

So, Austin P AP; Vilborg, Anna A; Bouhlal, Yosr Y; Koehler, Ryan T RT; Grimes, Susan M SM; Pouliot, Yannick Y; Mendoza, Daniel D; Ziegle, Janet J; Stein, Jason J; Goodsaid, Federico F; Lucero, Michael Y MY; De La Vega, Francisco M FM; Ji, Hanlee P HP

Publication Date: 2018

Variant appearance in text: IDH1: S261L

PubMed Link: 29354287

Variant Present in the following documents:

• 41525_2017_41_MOESM1_ESM.pdf

View BVdb publication page

---

Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget

Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG

Publication Date: 2017-12-19

Variant appearance in text: IDH1: S261L

PubMed Link: 29340109

Variant Present in the following documents:

• oncotarget-08-112036-s003.xlsx, sheet 1
• oncotarget-08-112036-s003.xlsx, sheet 2

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: IDH1: 782C>T; S261L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors.

Experimental And Molecular Pathology

Ananda, Guruprasad G; Mockus, Susan S; Lundquist, Micaela M; Spotlow, Vanessa V; Simons, Al A; Mitchell, Talia T; Stafford, Grace G; Philip, Vivek V; Stearns, Timothy T; Srivastava, Anuj A; Barter, Mary M; Rowe, Lucy L; Malcolm, Joan J; Bult, Carol C; Karuturi, Radha Krishna Murthy RK; Rasmussen, Karen K; Hinerfeld, Douglas D

Publication Date: 2015-02

Variant appearance in text: IDH1: S261L

PubMed Link: 25562415

Variant Present in the following documents:

• Main text

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: IDH1: S261L

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---