Publications:

---

Blocking Genomic Instability Prevents Acquired Resistance to MAPK Inhibitor Therapy in Melanoma.

Cancer Discovery

Dharanipragada, Prashanthi P; Zhang, Xiao X; Liu, Sixue S; Lomeli, Shirley H SH; Hong, Aayoung A; Wang, Yan Y; Yang, Zhentao Z; Lo, Kara Z KZ; Vega-Crespo, Agustin A; Ribas, Antoni A; Moschos, Stergios J SJ; Moriceau, Gatien G; Lo, Roger S RS

Publication Date: 2023-01-26

Variant appearance in text: NOTCH2: P2359A

PubMed Link: 36700848

Variant Present in the following documents:

• cd-22-0787_supplementary_tables_s1-s11_suppst1.xlsx, sheet 4

View BVdb publication page

---

Monitoring of circulating tumor DNA predicts response to treatment and early progression in follicular lymphoma: results of a prospective pilot study.

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

Fernández-Miranda, Ismael I; Pedrosa, Lucia L; Llanos, Marta M; Franco, Fernando F FF; Gómez, Sagrario S; Martín-Acosta, Paloma P; García-Arroyo, Francisco R FR; Gumà, Josep J; Horcajo, Beatriz B; Ballesteros, Ana K AK; Gálvez, Laura L; Martínez, Natividad N; Marín, Miguel M; Sequero, Silvia S; Navarro, Marta M; Yanguas-Casás, Natalia N; Calvo, Virginia V; Rueda-Domínguez, Antonio A; Provencio, Mariano M; Sánchez-Beato, Margarita M

Publication Date: 2022-10-21

Variant appearance in text: NOTCH2: P2359A

PubMed Link: 36269794

Variant Present in the following documents:

• ccr-22-1654_supplementary_data_2_suppds2.xlsx, sheet 6

View BVdb publication page

---

High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications

Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V

Publication Date: 2022-09-07

Variant appearance in text: NOTCH2: 7075C>G; P2359A

PubMed Link: 36071033

Variant Present in the following documents:

• 41467_2022_32828_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Olinger, Eric E; Schaeffer, Céline C; Kidd, Kendrah K; Elhassan, Elhussein A E EAE; Cheng, Yurong Y; Dufour, Inès I; Schiano, Guglielmo G; Mabillard, Holly H; Pasqualetto, Elena E; Hofmann, Patrick P; Fuster, Daniel G DG; Kistler, Andreas D AD; Wilson, Ian J IJ; Kmoch, Stanislav S; Raymond, Laure L; Robert, Thomas T; , ; Eckardt, Kai-Uwe KU; Bleyer, Anthony J AJ; Köttgen, Anna A; Conlon, Peter J PJ; Wiesener, Michael M; Sayer, John A JA; Rampoldi, Luca L; Devuyst, Olivier O

Publication Date: 2022-08-16

Variant appearance in text: NOTCH2: Pro2359Ala

PubMed Link: 35947615

Variant Present in the following documents:

• pnas.2114734119.sapp.pdf

View BVdb publication page

---

Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: NOTCH2: 7075C>G; Pro2359Ala

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

View BVdb publication page

---

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: NOTCH2: 7075C>G; P2359A; rs75831573

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

---

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Teerlink, Craig C CC; Miller, Justin B JB; Vance, Elizabeth L EL; Staley, Lyndsay A LA; Stevens, Jeffrey J; Tavana, Justina P JP; Cloward, Matthew E ME; Page, Madeline L ML; Dayton, Louisa L; , ; Cannon-Albright, Lisa A LA; Kauwe, John S K JSK

Publication Date: 2022-02

Variant appearance in text: NOTCH2: P2359A

PubMed Link: 34151536

Variant Present in the following documents:

• ALZ-18-307-s002.xlsx, sheet 3
• ALZ-18-307-s002.xlsx, sheet 1
• ALZ-18-307-s002.xlsx, sheet 2

View BVdb publication page

---

The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer

Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S

Publication Date: 2021-03

Variant appearance in text: NOTCH2: 7075C>G; Pro2359Ala; rs75831573

PubMed Link: 33402737

Variant Present in the following documents:

• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Baseline SUVmax is related to tumor cell proliferation and patient outcome in follicular lymphoma.

Haematologica

Rossi, Cédric C; Tosolini, Marie M; Gravelle, Pauline P; Pericart, Sarah S; Kanoun, Salim S; Evrard, Solene S; Gilhodes, Julia J; Franchini, Don-Marc DM; Amara, Nadia N; Syrykh, Charlotte C; Bories, Pierre P; Oberic, Lucie L; Ysebaert, Loïc L; Martin, Laurent L; Ramla, Selim S; Robert, Philippine P; Tabouret-Viaud, Claire C; Casasnovas, René-Olivier RO; Fournié, Jean-Jacques JJ; Bezombes, Christine C; Laurent, Camille C

Publication Date: 2022-01-01

Variant appearance in text: NOTCH2: 7075C>G; Pro2359Ala

PubMed Link: 33327711

Variant Present in the following documents:

• 2020_263194_ROSSI_TAB3_SUPPL.xls, sheet 1

View BVdb publication page

---

Differences between Well-Differentiated Neuroendocrine Tumors and Ductal Adenocarcinomas of the Pancreas Assessed by Multi-Omics Profiling.

International Journal Of Molecular Sciences

Starzyńska, Teresa T; Karczmarski, Jakub J; Paziewska, Agnieszka A; Kulecka, Maria M; Kuśnierz, Katarzyna K; Żeber-Lubecka, Natalia N; Ambrożkiewicz, Filip F; Mikula, Michał M; Kos-Kudła, Beata B; Ostrowski, Jerzy J

Publication Date: 2020-06-23

Variant appearance in text: NOTCH2: P2359A; rs75831573

PubMed Link: 32586046

Variant Present in the following documents:

• ijms-21-04470-s001.xlsx, sheet 1

View BVdb publication page

---

Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: NOTCH2: 7075C>G; P2359A; rs75831573

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

---

NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.

Journal Of Ovarian Research

Li, Lin L; Feng, Fan F; Zhao, Minying M; Li, Tengyan T; Yue, Wentao W; Ma, Xu X; Wang, Binbin B; Yin, Chenghong C

Publication Date: 2020-04-20

Variant appearance in text: NOTCH2: Pro2359Ala

PubMed Link: 32312275

Variant Present in the following documents:

• Main text
• 13048_2020_Article_645.pdf

View BVdb publication page

---

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

Journal Of The Endocrine Society

França, Monica Malheiros MM; Mendonca, Berenice Bilharinho BB

Publication Date: 2020-02-01

Variant appearance in text: NOTCH2: 7075C>G; Pro2359Ala

PubMed Link: 32099950

Variant Present in the following documents:

• Main text
• bvz037.pdf

View BVdb publication page

---

Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: NOTCH2: 7075C>G; P2359A; rs75831573

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.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: NOTCH2: 7075C>G; P2359A

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

---

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports

Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC

Publication Date: 2019-07-18

Variant appearance in text: NOTCH2: P2359A; rs75831573

PubMed Link: 31320741

Variant Present in the following documents:

• 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: NOTCH2: P2359A; rs75831573

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: NOTCH2: 7075C>G; Pro2359Ala; rs75831573

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

View BVdb publication page

---

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.

Human Molecular Genetics

Yang, Chunbo C; Xu, Yaobo Y; Yu, Min M; Lee, David D; Alharti, Sameer S; Hellen, Nicola N; Ahmad Shaik, Noor N; Banaganapalli, Babajan B; Sheikh Ali Mohamoud, Hussein H; Elango, Ramu R; Przyborski, Stefan S; Tenin, Gennadiy G; Williams, Simon S; O'Sullivan, John J; Al-Radi, Osman O OO; Atta, Jameel J; Harding, Sian E SE; Keavney, Bernard B; Lako, Majlinda M; Armstrong, Lyle L

Publication Date: 2017-08-15

Variant appearance in text: NOTCH2: P2359A

PubMed Link: 28521042

Variant Present in the following documents:

• suppl_table_2_ddx140.xls, sheet 1

View BVdb publication page

---

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: NOTCH2: P2359A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

---

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: NOTCH2: 7075C>G; P2359A; rs75831573

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: NOTCH2: P2359A; rs75831573

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: NOTCH2: P2359A

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

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: rs75831573

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: NOTCH2: P2359A; rs75831573

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

---

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: NOTCH2: P2359A; rs75831573

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

---